Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler... |
OMIM:607634 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
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 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Coxa vara, Failure to thrive, Macrocephaly, Hepatomegaly... |
OMIM:259700 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
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 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia |
OMIM:190320 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph... |
OMIM:259710 |
Eiken Syndrome |
|
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... |
OMIM:600002 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Macrocephaly, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia |
OMIM:615085 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Tooth agenesis, Severe short stature, Craniosynostosis, Micrognathia,... |
ORPHA:2645 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... |
OMIM:611490 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Microcephaly, Abnormality of limb bon... |
ORPHA:2204 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Mueller-Weiss Syndrome |
|
Talipes calcaneovarus, Edema of the dorsum of feet, Joint stiffness, Sclerosis of foot bone, Limi... |
ORPHA:566943 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Macrocep... |
ORPHA:53 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Choles... |
ORPHA:172 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal form of the ve... |
ORPHA:1802 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Joint stiffness, Thickened cortex of bones, Sclerosis o... |
ORPHA:564003 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... |
ORPHA:2501 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Cleidocranial Dysplasia |
|
Macrocephaly, Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruptio... |
ORPHA:1452 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... |
OMIM:190351 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Hip subluxation, Pancytopenia, Cranial hyperostosis, Increased bone mineral density... |
OMIM:259720 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density... |
ORPHA:2780 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Macrocephaly, Increased bone mineral density, Craniosynostosis, Broad jaw, Facial palsy |
ORPHA:178377 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... |
ORPHA:2114 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Endosteal Hyperostosis, Worth Type |
|
Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Mandibular prognathia, Abnorma... |
ORPHA:2790 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Micrognathia |
OMIM:617306 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Macrocephaly, Hepatomegaly, Hypophosphatemia, Pulmonary artery stenosis, Spl... |
ORPHA:667 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Desmosterolosis |
|
Failure to thrive, Narrow mouth, Macrocephaly, Anomalous pulmonary venous return, Increased bone ... |
ORPHA:35107 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple... |
OMIM:273050 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow... |
OMIM:112350 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Osteopetrosis, Splenomegaly, Growth delay, Intrauterine growth retar... |
OMIM:618541 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short stature, Short philtrum, Platyspondyly, Cone-shaped epiphysis, D... |
ORPHA:71267 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... |
OMIM:311300 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Increased head ci... |
OMIM:612301 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Diastrophic Dysplasia |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Disproportionate short-limb short stature,... |
OMIM:222600 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, S... |
ORPHA:63442 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Diaphyseal sclerosis, Short stature, Extramedullary hematopoiesis, Osteopetr... |
OMIM:259730 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o... |
OMIM:168400 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... |
OMIM:619489 |
Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Microcephaly, Diaphragmatic eventration, Delayed eruption of teeth |
OMIM:600252 |
Acrootoocular Syndrome |
|
Cutaneous syndactyly, Delayed eruption of teeth, Sandal gap, High, narrow palate, Micrognathia, S... |
ORPHA:2980 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Abnormality of the dentition, Anisocytosis, Abnormality of iro... |
ORPHA:231226 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic... |
OMIM:602361 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Narrow mouth, Short clavicles, Hypodontia, Reduced bone mineral density, Microg... |
OMIM:619322 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the... |
ORPHA:93324 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Gingival overgrowth, Extra... |
ORPHA:313855 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Abn... |
ORPHA:93160 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ... |
OMIM:618728 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Tooth malposition, Failure of eruption of permanent te... |
ORPHA:3238 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... |
ORPHA:231214 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Small hand, Anemia, Congenital hypoparathyroidism, Slender long bon... |
OMIM:244460 |
Ollier Disease |
|
Joint stiffness, Lymphangioma, Platyspondyly, Micromelia, Abnormal cartilage morphology, Osteolys... |
ORPHA:296 |
Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Trichorhinophalangeal Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Joint dislocation, Abnor... |
ORPHA:502 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Osteopenia, Flared metap... |
OMIM:619073 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth, Osteoporosi... |
OMIM:613849 |
Diastrophic Dysplasia |
|
Macrocephaly, Cleft palate, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar ... |
ORPHA:628 |
Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... |
OMIM:604757 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... |
ORPHA:37748 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteo... |
OMIM:277950 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Microdontia, Widely spaced... |
ORPHA:3352 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone dens... |
OMIM:136300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... |
OMIM:264475 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp... |
OMIM:234250 |
Osteoglophonic Dysplasia |
|
High palate, Broad phalanx, Craniosynostosis, Rhizomelia, Bowing of the long bones, Mandibular pr... |
OMIM:166250 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... |
OMIM:184260 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Macrocephaly, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Platyspondyly |
OMIM:618476 |
Hypochondroplasia |
|
Childhood onset short-limb short stature, Lumbar hyperlordosis, Malar flattening, Flared metaphys... |
OMIM:146000 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Small for gestational age,... |
OMIM:618392 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Limitation of... |
ORPHA:3145 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Macrocephaly, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of... |
ORPHA:2658 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... |
OMIM:612350 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... |
ORPHA:289157 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of femur morphology, Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, ... |
ORPHA:2063 |
Cleidocranial Dysplasia 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Absent frontal sin... |
OMIM:119600 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short neck, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypopla... |
OMIM:612463 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:100025 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Tooth malposition, Malar flattenin... |
ORPHA:2769 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Oligodontia, S... |
OMIM:618440 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... |
ORPHA:94089 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s... |
OMIM:156530 |
Aredyld Syndrome |
|
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Upslanted palpebral fissure,... |
ORPHA:1133 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Clinodactyly of the 5th toe |
ORPHA:99977 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
Craniometadiaphyseal Dysplasia |
|
High palate, Sclerosis of skull base, Macrocephaly, Broad long bones, Wide anterior fontanel, Mal... |
OMIM:269300 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sparse eyebrow, Abnormally ossified vertebrae, Micromelia, Abnormality of the pancr... |
ORPHA:175 |
Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Spondylo... |
OMIM:265800 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a... |
ORPHA:89937 |
Majeed Syndrome |
|
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral ... |
ORPHA:77297 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Brachydactyly, Type E1 |
|
Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ... |
OMIM:113300 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Slanting of the palpebral fissure, Abnormality of the dentition, Tapered finger, Pri... |
ORPHA:476126 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Hypocalcemia, Glossoptosis, Abnormality of the lymph... |
ORPHA:47 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... |
ORPHA:49042 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Pectoralis amyotrophy, Flexion contracture, Calf... |
ORPHA:267 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
High palate, Short distal phalanx of finger, Clinodactyly of the 5th finger, Supernumerary tooth,... |
ORPHA:77258 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Platyspondyly, Anisospondyly, Hemiatrophy of upper lim... |
ORPHA:163649 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... |
ORPHA:2972 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, ... |
ORPHA:2909 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm... |
ORPHA:93308 |
Tricho-Retino-Dento-Digital Syndrome |
|
Supernumerary tooth, Abnormality of the dentition, Oligodontia, Brachydactyly, Short 5th metacarpal |
ORPHA:1264 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... |
OMIM:231095 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Wide anterior fontanel, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, D... |
OMIM:617241 |
Osteopetrosis With Renal Tubular Acidosis |
|
High palate, Hepatomegaly, Abnormality of the dentition, Pancytopenia, Bone marrow hypocellularit... |
ORPHA:2785 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Sh... |
OMIM:614856 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Agenesis of molar, Supernumerary tooth, Osteopenia, Hypogonadotropic hypogonadism, Diastema, Micr... |
OMIM:619718 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Trisomy 9P |
|
Kyphosis, Clinodactyly of the 5th finger, Impacted tooth, Short neck, Scoliosis, Brachydactyly, D... |
ORPHA:236 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Cryptorchidism, Decreased response to growth hormone stimulation test, Small hand, ... |
OMIM:241410 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Failure to thrive, Mal... |
OMIM:614727 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Obtuse angle of mandible, Wide anterior fontanel, Macrocephaly, Increased bone miner... |
ORPHA:85184 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Cartilage destruction, Short stature |
ORPHA:2380 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
12Q14 Microdeletion Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Thick eyebrow, Hypodontia, Thin vermilion bord... |
ORPHA:94063 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short l... |
ORPHA:1505 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met... |
OMIM:156510 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Recurrent fractures, Irregular vertebral endplates, Hypoplasti... |
ORPHA:1782 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Adducted thumb, Decreased testicular size, Growth delay, Thrombocytopenia |
OMIM:601815 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... |
ORPHA:93314 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi... |
ORPHA:3473 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Failure to thrive, High, narrow palate, Small hand, Micrognathia, Muscular dystrophy, Upper limb ... |
OMIM:608799 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, Em... |
ORPHA:436 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Osteoporosis |
OMIM:204730 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Cortical sclerosis, Macrocephaly, Diaphyseal sclerosis, Craniofacial osteosclero... |
OMIM:122860 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
OMIM:300400 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Delayed eruption of... |
ORPHA:811 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... |
OMIM:224300 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... |
ORPHA:353298 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... |
ORPHA:1798 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Muscular dystrophy, Osteoporosis, Pathologic fracture, Downturned corn... |
OMIM:307030 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact... |
ORPHA:2635 |
Schwartz-Jampel Syndrome |
|
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Micromelia, Genu valgum, A... |
ORPHA:800 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... |
ORPHA:1423 |
Cartilage-Hair Hypoplasia |
|
Sparse hair, Sparse eyebrow, Femoral bowing, Macrocytic anemia, Neonatal short-limb short stature... |
OMIM:250250 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morpholo... |
ORPHA:3344 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Slc35A2-Cdg |
|
Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin level, Short tibia, Ap... |
ORPHA:356961 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia, Lymphadenopathy |
ORPHA:100024 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Microcephaly, Brachydactyly, Osteoporosis, Wormian bones, Joint h... |
ORPHA:2787 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Microretrognathia, Short stature, Calcification of cartilage, Gr... |
ORPHA:2867 |
Frank-Ter Haar Syndrome |
|
Joint stiffness, Wide mouth, Gingival overgrowth, Premature loss of teeth, Kyphosis, Beaking of v... |
ORPHA:137834 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Short stature, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Sco... |
ORPHA:166272 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... |
OMIM:619658 |
Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, Abnormal dental enam... |
ORPHA:3019 |
Vitamin D-Dependent Rickets, Type 2A |
|
Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Metaphyseal irregular... |
OMIM:277440 |
Gaucher Disease Type 1 |
|
Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste... |
ORPHA:77259 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, ... |
OMIM:264700 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Increased mean corpuscular volume, Cleft palate, Tracheomalacia, Retrognathia, M... |
OMIM:612561 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Small hand, Abnormality of the dentition, Microcephaly, Microgn... |
ORPHA:2323 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocyto... |
OMIM:603554 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Multiminicore Myopathy |
|
Joint stiffness, Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in... |
ORPHA:598 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital muscular dystrophy, Failure to thrive, Generalized amyotrophy, Flexion contracture |
OMIM:613205 |
Hennekam Syndrome |
|
Lymphangioma, Craniosynostosis, Short philtrum, Delayed eruption of teeth, Tooth agenesis, Spleno... |
ORPHA:2136 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio... |
OMIM:201000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Short stature, Camptodactyly, Short thumb |
OMIM:618453 |
Camurati-Engelmann Disease |
|
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... |
OMIM:131300 |
Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Micrognathia, Osteopenia, Delayed cranial suture closure, Brachydactyly, D... |
OMIM:601812 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Sho... |
ORPHA:557003 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Pulmonary hypoplasia, Cont... |
OMIM:601559 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Muscular dystrophy, limb-girdle, type 2R |
|
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy |
OMIM:615325 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
OMIM:608154 |
Dyssegmental Dysplasia With Glaucoma |
|
Hip contracture, Delayed epiphyseal ossification, Malar flattening, Cleft palate, Short stature, ... |
OMIM:601561 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, S... |
ORPHA:79444 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Talipes equinovarus, Butterfly vertebrae, Short femur, Hypoplasi... |
OMIM:607143 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Microcephaly, Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, A... |
OMIM:224120 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... |
OMIM:271630 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... |
ORPHA:93316 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Toe clinodactyly, Wormian bones, Upper limb undergrowth, Pathologic fr... |
ORPHA:166277 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Macroglossia, Muscular dystrophy, Microcephaly, Congenital muscular dystroph... |
OMIM:613155 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Diamond-Blackfan Anemia 8 |
|
Thick upper lip vermilion, Increased mean corpuscular volume, Short stature, Macrocytic anemia, N... |
OMIM:612563 |
Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5... |
ORPHA:1972 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis |
OMIM:618234 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... |
ORPHA:69087 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Rocker bottom foot, Flexion contracture, Micrognathia, ... |
OMIM:214150 |
Roifman Syndrome |
|
Hepatomegaly, Prominent eyelashes, Downslanted palpebral fissures, Clinodactyly of the 5th finger... |
OMIM:616651 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Failure to thrive, Metaphyseal cupping, Short ribs, Craniosynostosis, Abnorma... |
OMIM:241500 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Microretrognat... |
ORPHA:324604 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Short neck, Platyspondyly, Monkey wrenc... |
OMIM:251450 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Nance-Horan Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Short metacarpal, Mandibular prognathia |
ORPHA:627 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Relative macrocephaly, Macroglossia, Increased body mass index, Congenital hip dislocation, Delay... |
OMIM:614450 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... |
ORPHA:1328 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Syndactyly, Osteoporosis, Macrocytic anemia, Clin... |
ORPHA:2169 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, Tr... |
OMIM:616583 |
Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathia, Oligodontia... |
ORPHA:1787 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... |
ORPHA:824 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Everted lower lip vermilion, Microcephaly, Delayed eruption of teeth, Truncal ... |
ORPHA:181393 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Long toe, Long fingers, Macrocytic anemia, Anemia, Hepatic steatosis |
OMIM:615438 |
Hallermann-Streiff Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, Narrow palate, Supernumerary tooth, High, narrow ... |
OMIM:234100 |
Ck Syndrome |
|
High palate, Kyphosis, Slender build, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hy... |
OMIM:300831 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen... |
OMIM:619795 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Macrocephaly, Hypocalcemia, Increased bone mineral density, Small for gestati... |
OMIM:127000 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... |
OMIM:215045 |
Leri-Weill Dyschondrosteosis |
|
High palate, Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valg... |
OMIM:127300 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Short neck, Disproportionate short-trunk short stature, Block vertebrae, Vertebral ... |
OMIM:272460 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metatarsal osteolysis, Micrognathia... |
OMIM:166300 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Mild microcephaly, Cam... |
OMIM:618761 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, M... |
OMIM:235255 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Microcephaly, Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture |
OMIM:609308 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Increased endomysial connective tissue, Flexion contracture, Muscular ... |
OMIM:617072 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Cutaneous finger syndactyly, Delayed crani... |
OMIM:113000 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Malar flattening, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint la... |
OMIM:130060 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... |
ORPHA:2370 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Supernumerary tooth, Prominent fingertip pads, Thin vermilion border, Microcephaly, ... |
OMIM:617412 |
Grant Syndrome |
|
Joint dislocation, Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibil... |
ORPHA:2097 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Growth delay, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Supernumerary tooth, Talipes equinovarus, Small for gestational age, Small hand, Mic... |
OMIM:268400 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Oral ulcer, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Dentinogenesis imperfecta, Anterior... |
OMIM:610967 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Macrocephaly, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-... |
OMIM:218400 |
Hallermann-Streiff Syndrome |
|
Abnormality of the fontanelles or cranial sutures, Recurrent fractures, Abnormality of the tongue... |
ORPHA:2108 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Metaphyseal sclerosis, Polycythemia, Sclerosis o... |
ORPHA:2905 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Flat capital femor... |
OMIM:190350 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxat... |
OMIM:259600 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Short stature, Abnormality of the ... |
ORPHA:1858 |
Singleton-Merten Syndrome 1 |
|
Expanded metacarpals with widened medullary cavities, Tendon rupture, Osteopenia, Carious teeth, ... |
OMIM:182250 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Decreased circulating IgA level, Alopecia, Short stature, Rickets, Osteoporosis, Mac... |
OMIM:212750 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Telecanthus, Recurrent aspiratio... |
OMIM:300484 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limi... |
OMIM:604922 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Metaphyseal irregu... |
OMIM:607326 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Macrocephaly, Narrow palate, Hepatomegaly, Macroglossia... |
ORPHA:61 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay |
OMIM:243320 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Uln... |
OMIM:194350 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Persistence of primary teeth, Supernumerary tooth, Talipes equinovarus, Increased su... |
OMIM:619752 |
Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Flexion contracture, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnorma... |
ORPHA:263463 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Macrocephaly, Persistence of primary teeth, Everted lower lip vermilion, Gingival fi... |
OMIM:228560 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, S... |
ORPHA:79443 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... |
ORPHA:96334 |
Osteopetrosis, Autosomal Dominant 3 |
|
Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,... |
OMIM:618107 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Lumbar hyperl... |
OMIM:602557 |
Kniest Dysplasia |
|
Cleft palate, Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplastic ... |
OMIM:156550 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos... |
OMIM:147060 |
Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Coxa vara, Short stature, Platyspondyly, Scoliosis, Osteoporosis, Prot... |
OMIM:259450 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Subcutaneous ossification, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Ena... |
OMIM:103580 |
Cranioectodermal Dysplasia 1 |
|
High palate, Hepatomegaly, Microdontia, Malformation of the hepatic ductal plate, Hepatic cysts, ... |
OMIM:218330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Calf muscle hypertrophy... |
OMIM:608840 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t... |
OMIM:313420 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... |
OMIM:301078 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, Delayed erupti... |
ORPHA:2863 |
Hall-Riggs Syndrome |
|
Joint stiffness, Wide mouth, Failure to thrive, Short stature, Platyspondyly, Scoliosis, Delayed ... |
ORPHA:2107 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature |
OMIM:608278 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Disproportionate short-limb short stature, Dentinogenesis imperfec... |
OMIM:259440 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Macrocephaly, Decreased response to growth hormone s... |
OMIM:614732 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy, Clinodactyly of the 5th toe |
ORPHA:99976 |
Acromicric Dysplasia |
|
Narrow mouth, Fifth metacarpal with ulnar notch, Severe short stature, Short metacarpal, Cone-sha... |
OMIM:102370 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... |
ORPHA:93359 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Macrocephaly, Everted lower lip vermilion, Delayed eruption of ... |
ORPHA:2025 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Xerostomia, Autoimmune... |
ORPHA:227990 |
Rigid Spine Muscular Dystrophy 1 |
|
High palate, Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Fl... |
OMIM:602771 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Micrognathia, Campt... |
ORPHA:3409 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Malar flattening, Cleft palate, Horizont... |
OMIM:256050 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Small ... |
ORPHA:73272 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, ... |
OMIM:613818 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Cubitus valgus, Joint hyperflexibility, Hypogonadism |
ORPHA:1875 |
Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario... |
OMIM:253010 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Xerost... |
ORPHA:227982 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Ullrich Congenital Muscular Dystrophy 1 |
|
High palate, Muscle fiber necrosis, Torticollis, Slender build, Failure to thrive, Talipes equino... |
OMIM:254090 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... |
ORPHA:950 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cleft palate, Cr... |
OMIM:251230 |
Neu-Laxova Syndrome |
|
Cleft palate, Osteopenia, Micromelia, Hypogonadism, Pterygium, Trismus, Skeletal muscle atrophy, ... |
ORPHA:2671 |
Brachydactyly, Type E2 |
|
Short stature, Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short met... |
OMIM:613382 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Premature loss of teeth, Failure to thrive, Macrocephaly, Relative macrocephaly, Increased bone m... |
OMIM:239000 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Marinesco-Sjögren Syndrome |
|
Abnormality of finger, Coxa valga, Microcephaly, Muscular dystrophy, Hip dysplasia, Avascular nec... |
ORPHA:559 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limited shoulder movement, A... |
ORPHA:62 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... |
ORPHA:85198 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... |
ORPHA:457395 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Cleft palate, Osteopenia, Osteoporosis, Macrocytic anemia, Tri... |
OMIM:612562 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... |
OMIM:612954 |
48,Xxyy Syndrome |
|
Infertility, Taurodontia, Clinodactyly of the 5th finger, Azoospermia, Cleft palate, Open bite, H... |
ORPHA:10 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, H... |
OMIM:612462 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Gapo Syndrome |
|
Wide anterior fontanel, Eruption failure, Hepatomegaly, High, narrow palate, Sparse eyebrow, Spar... |
OMIM:230740 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, D... |
ORPHA:94068 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Upslante... |
ORPHA:3035 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, Ti... |
ORPHA:289176 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Micrognathia, Sparse eyelashes, Macrocytic anemia |
OMIM:300946 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Cari... |
OMIM:226670 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:209950 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Acrocephalopolydactyly |
|
Genu recurvatum, Hepatosplenomegaly, Brachydactyly, Limb undergrowth, Epicanthus, Short long bone |
ORPHA:221054 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Chronic noninfectious lymphadenopathy, Osteopenia... |
ORPHA:97289 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... |
ORPHA:1306 |
Duplication Of The Pituitary Gland |
|
Abnormality of joint mobility, Wide mouth, Abnormality of the tongue, Decreased body weight, Supe... |
ORPHA:314621 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Wide mouth, Kyphosis, Reduced bone mineral density, Short stature, Abnorma... |
ORPHA:582 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Anodontia, Everted lower lip vermilion, Short stature, Oligodontia, Scoliosis, Tapered ... |
ORPHA:276630 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C... |
OMIM:612714 |
Fetal Akinesia Deformation Sequence 4 |
|
High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly... |
OMIM:618393 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Retrognathia, Micrognathia, Microcephaly, Delayed cranial suture closure, Gi... |
ORPHA:1832 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b... |
ORPHA:1327 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Lumbar hyperlordosis, Severe short stature, Malar flattening, S... |
OMIM:612921 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Cleft palate, Absent thumb, Hypoplasia of the radius, Short stat... |
OMIM:614900 |
Temple-Baraitser Syndrome |
|
High palate, Wide mouth, Short phalanx of the thumb, Delayed eruption of teeth, Long eyelashes, T... |
ORPHA:420561 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Sandal gap, Hypoplasia of the maxilla, Bowing of the long... |
ORPHA:1106 |
Dpm1-Cdg |
|
U-Shaped upper lip vermilion, Failure to thrive, Long hallux, High, narrow palate, Micrognathia, ... |
ORPHA:79322 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Micrognathia, Broad phalanx, Broad metatarsal, Prominent metopic ridge |
OMIM:275595 |
Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ... |
OMIM:253000 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Macrocephaly, Abnormality of the dentition, Short philtrum, Tented upper lip vermilio... |
ORPHA:1507 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microdontia, Postaxial hand polyda... |
OMIM:258850 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Laron Syndrome |
|
Short toe, Tooth agenesis, Micrognathia, Osteoarthritis, Brachydactyly, Delayed eruption of teeth... |
ORPHA:633 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Microcephaly, Muscular dystrophy, Congenital muscular dystrophy, Facial palsy, Myopathy |
OMIM:602541 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Narrow mouth, Hypocalcemia, Abnormality of cartilage of ex... |
ORPHA:3426 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cuppin... |
OMIM:608940 |
Codas Syndrome |
|
Short metacarpal, Short stature, Congenital hip dislocation, Scoliosis, Delayed eruption of teeth... |
ORPHA:1458 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Dia... |
OMIM:598500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Extramedullary hematop... |
ORPHA:79303 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly... |
ORPHA:1655 |
Sponastrime Dysplasia |
|
Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the nasal bone, Genu valgum... |
ORPHA:93357 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Failure to thrive, Kyphosis, Narrow mouth, Short stature, Tongue fasciculations, Hip dysplasia |
OMIM:620007 |
Cherubism |
|
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme... |
OMIM:118400 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased circulating IgA lev... |
OMIM:601859 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Mandibular pain, Abnormality of finger, Lymphangioma, Abnormal b... |
ORPHA:73 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Severe short stature, Cleft palate, Flexion contracture, Malar flattening, Microg... |
OMIM:215100 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Pneumonia, Failure to thrive secondary... |
OMIM:608971 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Short stature, Micrognathia, Scoliosis, Delayed eruption of teeth,... |
ORPHA:2050 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Flexion contra... |
OMIM:609628 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Microceph... |
OMIM:606612 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Torticollis, Cleft palate, Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible mor... |
OMIM:217150 |
Coffin-Siris Syndrome 10 |
|
Wide mouth, Microcephaly, Persistence of primary teeth, Clinodactyly |
OMIM:618506 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Malar flattening, Delayed cranial suture closure, Microc... |
ORPHA:2511 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Kyphosis, Short stature, Congenital bilateral hip dislocation, Small for gestational age |
ORPHA:85288 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
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Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... |
OMIM:158901 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ... |
OMIM:101800 |
Anemia, Sideroblastic, 1 |
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Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Otopalatodigital Syndrome Type 2 |
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Cleft palate, Downslanted palpebral fissures, Pulmonary hypoplasia, Bowing of the long bones, Car... |
ORPHA:90652 |
Chime Syndrome |
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Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the phalanges of the toes, A... |
ORPHA:3474 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... |
OMIM:617925 |
Orofaciodigital Syndrome Ix |
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High palate, Accessory oral frenulum, Cleft palate, Short tibia, Microcephaly, Abnormality of the... |
OMIM:258865 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Abnormal abdomen ... |
OMIM:241530 |
Acromesomelic Dysplasia 2C |
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Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Infantile Myofibromatosis |
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Neoplasm of the pancreas, Bone cyst, Neoplasm of the lung, Gingival fibromatosis, Osteolysis, Hyp... |
ORPHA:2591 |
Mantle Cell Lymphoma |
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Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Minicore Myopathy With External Ophthalmoplegia |
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High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:255320 |
Autoimmune Hypoparathyroidism |
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Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,... |
ORPHA:36913 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Granulocytopenia, Cleft palate, Sparse eyebrow, Short stature, Micrognathia, Bifid uvula, Macrocy... |
OMIM:606164 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
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Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Kniest Dysplasia |
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Flexion contracture of finger, Cleft palate, Short neck, Platyspondyly, Disproportionate short-tr... |
ORPHA:485 |
Hypophosphatasia, Adult |
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Recurrent fractures, Premature loss of primary teeth, Osteomalacia, Premature loss of permanent t... |
OMIM:146300 |
Fibrous Dysplasia Of Bone |
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Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Iii |
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Recurrent fractures, Kyphosis, Tibial bowing, Dentinogenesis imperfecta, Disproportionate short-l... |
OMIM:259420 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Intrauterine growth retardation, Macrocytic anemia |
OMIM:615578 |
Immunodeficiency 64 |
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Increased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Cervical lymphade... |
OMIM:618534 |
Elsahy-Waters Syndrome |
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High palate, Dental malocclusion, Cervical C2/C3 vertebral fusion, Supernumerary tooth, Malar fla... |
OMIM:211380 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... |
OMIM:615559 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Cone-shaped epiphyses of the toes, Macrocephaly, Cone-shaped epiphyses of the 4th toe, Cone-shape... |
ORPHA:397973 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
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Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:613723 |
Progressive Pseudorheumatoid Dysplasia |
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Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
Ring Chromosome 10 Syndrome |
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Hypocalcemia, Thin vermilion border, Micrognathia, Cachexia, Long philtrum, Tapered finger, Downs... |
ORPHA:1438 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
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High palate, Hypertrichosis, Short stature, Hepatosplenomegaly, Hypothyroidism, Deep philtrum, Mi... |
OMIM:619750 |
Rhizomelic Syndrome, Urbach Type |
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High palate, Kyphosis, Abnormality of the tongue, Short distal phalanx of finger, Cleft palate, S... |
ORPHA:3098 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
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Muscular dystrophy, Talipes equinovarus, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:611588 |
Rosaï-Dorfman Disease |
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Anemia, Lymphadenopathy, Osteolysis |
ORPHA:158014 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Rothmund-Thomson Syndrome Type 2 |
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High palate, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Osteopenia, Spars... |
ORPHA:221016 |
Craniosynostosis And Dental Anomalies |
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High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, 2-3 toe syndactyly, Coronal... |
OMIM:614188 |
Diamond-Blackfan Anemia 4 |
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Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia |
OMIM:612527 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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High palate, Dental crowding, Relative macrocephaly, Talipes equinovarus, Macroglossia, Long phil... |
OMIM:616354 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
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Talipes equinovarus, Macroglossia, Triangular tongue, Muscular dystrophy, Calf muscle hypertrophy... |
OMIM:616827 |
Pitt-Hopkins Syndrome |
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Abnormal palate morphology, Wide mouth, Failure to thrive, Growth delay, Tooth malposition, Failu... |
ORPHA:2896 |
Hypodontia-Dysplasia Of Nails Syndrome |
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Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
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Sparse scalp hair, Tooth agenesis, Alopecia, Short philtrum, Delayed eruption of teeth, Mandibula... |
ORPHA:2325 |
Immunodeficiency 14A, Autosomal Dominant |
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Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Short ti... |
OMIM:201170 |
3M Syndrome |
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Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of the ulna, Hypopl... |
ORPHA:2616 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
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Microcephaly, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cleft palate |
OMIM:615350 |
Momo Syndrome |
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High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Abnormal bone ossificat... |
ORPHA:2563 |
Myopathy, Myofibrillar, 2 |
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EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
48,Xxxy Syndrome |
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Cleft palate, Abnormal social behavior, Down-sloping shoulders, Delayed eruption of teeth, Cariou... |
ORPHA:96263 |
Formiminoglutamic Aciduria |
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Megaloblastic anemia, Anemia |
ORPHA:51208 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl... |
OMIM:612447 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... |
OMIM:619269 |
Essential Thrombocythemia |
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Acute leukemia, Myelofibrosis, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Orofaciodigital Syndrome Type 10 |
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Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Telecanthus, Oligodactyl... |
ORPHA:2756 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Megaloblastic anemia, Short stature, Thrombocytopenia, Diabetes mellitus |
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