Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Intermediate Osteopetrosis |
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Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Neonatal Severe Primary Hyperparathyroidism |
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Hepatomegaly, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circu... |
ORPHA:417 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... |
OMIM:300400 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones |
ORPHA:53697 |
Immunodeficiency 42 |
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Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Majeed Syndrome |
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Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... |
ORPHA:77297 |
Mazabraud Syndrome |
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Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Monosomy 5P |
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Inguinal hernia, Recurrent fractures, Short neck, Joint hyperflexibility, Abnormality of bone min... |
ORPHA:281 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Osteopetrosis, Autosomal Dominant 3 |
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Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Beta-Thalassemia Intermedia |
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Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Immunodeficiency 104 |
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Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
Gaucher Disease Type 1 |
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Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Wilson Disease |
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Back pain, Hepatomegaly, Acute hepatitis, Splenomegaly, Jaundice, Bone pain, Increased body weigh... |
ORPHA:905 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Osteopenia, Eosinophilia, Craniosynostosis, Recurrent fractures, Scoliosis, Joint hypermobility, ... |
OMIM:147060 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
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Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... |
OMIM:130060 |
Immunodeficiency 76 |
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Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia |
OMIM:619164 |
Osteopetrosis, Autosomal Recessive 1 |
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Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Sandwich appearance of... |
OMIM:259700 |
Immunodeficiency 9 |
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Death in infancy, Failure to thrive, Hypoplasia of the thymus, Amelogenesis imperfecta |
OMIM:612782 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Hypophosphatasia, Infantile |
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Death in infancy, Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, De... |
OMIM:241500 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
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Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, De... |
ORPHA:2410 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... |
OMIM:243150 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Bruck Syndrome 1 |
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Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... |
OMIM:259450 |
Familial Papillary Or Follicular Thyroid Carcinoma |
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Chronic noninfectious lymphadenopathy, Recurrent fractures, Follicular thyroid carcinoma, Bone pa... |
ORPHA:319487 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat... |
OMIM:610967 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Increased susceptibility to fractures, Scoliosis, Neutropenia, Lymphopenia, Reduced natural kille... |
OMIM:619752 |
Immunodeficiency 19 |
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T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Albers-Schönberg Osteopetrosis |
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Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
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Osteopenia, Recurrent fractures |
OMIM:619884 |
Gaucher Disease, Type I |
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Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, ... |
OMIM:230800 |
Osteogenesis Imperfecta, Type Ix |
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Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cryptorchidism, Jaundice, Death... |
OMIM:214110 |
Osteogenesis Imperfecta, Type Xix |
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Osteopenia, Recurrent fractures, Multiple prenatal fractures, Vertebral wedging, Scoliosis, Bicon... |
OMIM:301014 |
Osteogenesis Imperfecta, Type Xxii |
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Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... |
OMIM:619795 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil... |
ORPHA:97290 |
Gorham-Stout Disease |
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Osteopenia, Osteomyelitis, Lymphangioma, Osteolysis involving bones of the upper limbs, Bone pain... |
ORPHA:73 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Multiple Enchondromatosis, Maffucci Type |
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Pathologic fracture |
OMIM:614569 |
Infantile Systemic Hyalinosis |
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Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne... |
ORPHA:2176 |
Osteopetrosis, Autosomal Recessive 9 |
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Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... |
OMIM:620366 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
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Recurrent fractures |
ORPHA:2773 |
Hypophosphatasia |
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Anemia, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
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Intrauterine growth retardation, Recurrent fractures, Death in childhood |
OMIM:620368 |
Mycetoma |
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Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the lymphatic system, Abnormal ... |
ORPHA:2583 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
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Increased spinal bone density, Bone pain, Recurrent fractures |
ORPHA:329475 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Stuve-Wiedemann Syndrome 2 |
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Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Intrauterine growth r... |
OMIM:619751 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn... |
ORPHA:93315 |
Pycnodysostosis |
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Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... |
ORPHA:763 |
Osteogenesis Imperfecta, Type Xiv |
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Osteopenia, Recurrent fractures, Scoliosis, Increased susceptibility to fractures |
OMIM:615066 |
Thanatophoric Dysplasia, Glasgow Variant |
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Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess... |
OMIM:612541 |
Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, Increased susce... |
OMIM:610968 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Bone pain, Osteolysis, Abnorma... |
ORPHA:93160 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
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Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Maffucci Syndrome |
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Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... |
ORPHA:163634 |
Osteogenesis Imperfecta, Type Vi |
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Joint laxity, Vertebral compression fracture, Increased susceptibility to fractures, Biconcave ve... |
OMIM:613982 |
Lethal Congenital Contracture Syndrome 10 |
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Omphalocele, Thoracic scoliosis, Stiff neck, Short neck, Hypoplasia of the thymus, Intrauterine g... |
OMIM:617022 |
Mccune-Albright Syndrome |
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Accelerated skeletal maturation, Bone pain, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, ... |
ORPHA:562 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Omphalocele, Premature thelarche, Osteolysis involving bones of the upper limbs, Oste... |
ORPHA:371428 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Arthritis, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... |
OMIM:601457 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormality of the vertebral co... |
ORPHA:52430 |
Bruck Syndrome 2 |
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Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
OMIM:609220 |
Isolated Anencephaly |
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Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di... |
ORPHA:563609 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... |
ORPHA:277 |
Urban-Rogers-Meyer Syndrome |
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Camptodactyly of finger, Recurrent fractures, Short neck, Cryptorchidism, Kyphosis, Osteoporosis,... |
ORPHA:3409 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Mirage Syndrome |
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Hypergonadotropic hypogonadism, Adrenal hypoplasia, Radial club hand, Cryptorchidism, Thrombocyto... |
OMIM:617053 |
Fetal Gaucher Disease |
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Death in infancy, Pancytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly, Flexion co... |
ORPHA:85212 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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Osteopenia, Pathologic fracture, Bone cyst |
OMIM:618193 |
Geroderma Osteodysplasticum |
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Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
Gracile Bone Dysplasia |
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Death in infancy, Failure to thrive, Asplenia, Hypoplastic spleen, Decreased skull ossification |
OMIM:602361 |
Geroderma Osteodysplastica |
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Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Abnormal form of the vertebral bo... |
ORPHA:2078 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased susceptibility to... |
ORPHA:2788 |
Familial Expansile Osteolysis |
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Pathologic fracture, Bone pain, Osteolysis, Thin bony cortex |
OMIM:174810 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Ataxia-Telangiectasia |
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Failure to thrive, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lympho... |
OMIM:208900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calvarial ossification, In... |
ORPHA:2772 |
Syndromic Diarrhea |
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Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom... |
ORPHA:84064 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... |
OMIM:614856 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... |
OMIM:615220 |
Bruck Syndrome |
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Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... |
ORPHA:2771 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hyperflexib... |
ORPHA:2314 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia... |
OMIM:613177 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... |
OMIM:259420 |
Arthrogryposis, Distal, Type 2A |
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Hip contracture, Flexion contracture of finger, Inguinal hernia, Failure to thrive, Recurrent fra... |
OMIM:193700 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Delayed skeletal matura... |
ORPHA:77261 |
Variant Abeta2M Amyloidosis |
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Multiple bony cystic lesions, Hepatic amyloidosis, Wrist pain, Pathologic fracture, Abnormal sali... |
ORPHA:314652 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Bone marrow hy... |
OMIM:612199 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Greenberg Dysplasia |
|
Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic vertebral bodi... |
OMIM:215140 |
Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures, Microcytic anemia |
ORPHA:1656 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Advanced ossification of carpal bones, Increased suscep... |
OMIM:615349 |
Multiple Myeloma |
|
Osteopenia, Splenomegaly, Bone pain, Lymphadenopathy, Weight loss, Pathologic fracture, Vertebral... |
ORPHA:29073 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,... |
OMIM:263700 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Ovarian neoplasm, Reduced bone mineral density, Lymphangioma, Neoplasm of th... |
ORPHA:137608 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... |
OMIM:619377 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Accelerated skeletal maturation, Increased susceptibility to fractures, Reduced... |
ORPHA:561 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Fractures of the long bones, Bone pain, Osteolysis, Incr... |
OMIM:602080 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Increased susceptibility to fr... |
ORPHA:289157 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Recurrent fractures, Splenomegaly, Primary hyperparathyroidism, Elevated circulatin... |
OMIM:239200 |
Achondrogenesis Type 1A |
|
Femoral hernia, Recurrent fractures, Short neck, Abnormal enchondral ossification, Umbilical hernia |
ORPHA:93299 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Joint hyperflexibility, Delayed skeletal maturation, Recurrent fractures |
ORPHA:2324 |
Rin2 Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased susceptibility to fractures, Scoliosis,... |
ORPHA:217335 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
H Syndrome |
|
Diabetes mellitus, Lipodystrophy, Recurrent fractures, Microcytic anemia, Delayed skeletal matura... |
ORPHA:168569 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Small for gestational age, Short neck, Multiple prenatal fractures,... |
OMIM:616897 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... |
OMIM:612260 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... |
ORPHA:166277 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Scoliosis, Dentinogen... |
OMIM:613849 |
Solitary Bone Cyst |
|
Back pain, Bone pain, Unicameral bone cyst, Abnormal form of the vertebral bodies, Pathologic fra... |
ORPHA:83468 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... |
OMIM:312150 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures |
OMIM:304700 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
ORPHA:171433 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... |
ORPHA:1782 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Osteoporosis, Anemi... |
OMIM:222700 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Biconcave vertebral bodies, Umbilical hernia... |
OMIM:617952 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... |
OMIM:264700 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... |
OMIM:277440 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Limb joint contracture, Small for gestational age, Nodular regenerative hyperplasia... |
ORPHA:404454 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Ty... |
ORPHA:436252 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... |
OMIM:253290 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Vertebral segmentation defect, Aplasia of the thymus |
ORPHA:3004 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... |
OMIM:619510 |
Adamantinoma |
|
Pathologic fracture, Bone pain |
ORPHA:55881 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar... |
ORPHA:1822 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616867 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... |
OMIM:600081 |
Fibrous Dysplasia Of Bone |
|
Bone pain, Thyroid carcinoma, Patchy reduction of bone mineral density, Abnormality of the cervic... |
ORPHA:249 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Inguinal hernia, Recurrent fractures, Ovarian cyst, Subperiostea... |
OMIM:618188 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... |
OMIM:241530 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Recurrent fractures, Multiple prenatal fractures, Absent ossification ... |
OMIM:166210 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... |
OMIM:610915 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abnormal dental enamel morpholo... |
ORPHA:2909 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility |
OMIM:619115 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis, Obesity, Delayed pubert... |
ORPHA:251004 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Thoracolumbar kyphoscoliosis, Craniosynostosis, Ovoid ... |
OMIM:252500 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc... |
OMIM:112240 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... |
OMIM:224300 |
Grange Syndrome |
|
Increased susceptibility to fractures |
ORPHA:79094 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Small for gestational age, Recurrent fractures, Decreased calvarial ossification, Pla... |
OMIM:616229 |
Prader-Willi Syndrome |
|
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... |
ORPHA:739 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Failure to thrive, Recurrent fractures, Short neck, Hy... |
ORPHA:955 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia ... |
ORPHA:861 |
Osteosarcoma |
|
Pathologic fracture, Osteolysis, Weight loss |
ORPHA:668 |
Gaucher Disease |
|
Osteopenia, Osteoarthritis, Bone pain, Avascular necrosis, Death in infancy, Increased bone miner... |
ORPHA:355 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... |
ORPHA:83471 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Hepatocellular carcinoma, Osteo... |
ORPHA:79259 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Intrauterine growth retardation, Inguinal hernia, Joint hypermobility, Increased susceptibility t... |
ORPHA:357058 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Blue Rubber Bleb Nevus |
|
Pathologic fracture, Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Recurrent fractures, Abnormality of ne... |
ORPHA:1775 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... |
OMIM:259770 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... |
OMIM:616294 |
Juvenile Paget Disease |
|
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization |
ORPHA:2801 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contracture... |
OMIM:614008 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Joint stiffness, Avascular necrosis of ... |
ORPHA:581 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Abnormal... |
ORPHA:567 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Kyphosi... |
OMIM:239000 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Bone pain, Increased susceptibility to fractures, Pathologic frac... |
ORPHA:352540 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Joint hypermobility |
OMIM:619131 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Increased susceptibility to fractures |
ORPHA:216866 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Abnormal ... |
ORPHA:536471 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... |
ORPHA:2969 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst |
OMIM:221770 |
Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Recurrent fractures, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:2050 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduce... |
ORPHA:18 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to inju... |
OMIM:608654 |
Aspartylglucosaminuria |
|
Joint laxity, Hepatomegaly, Beaking of vertebral bodies, Kyphosis, Delayed skeletal maturation, V... |
OMIM:208400 |
Hamamy Syndrome |
|
Osteopenia, Hypoparathyroidism, Inguinal hernia, Recurrent fractures, Craniosynostosis, Microcyti... |
OMIM:611174 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures |
ORPHA:453510 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Digeorge Syndrome |
|
Hepatic steatosis, Inguinal hernia, Pilonidal sinus, Parathyroid agenesis, Femoral hernia, Decrea... |
OMIM:188400 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Lumbosacral meningocele, In... |
OMIM:607330 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodular cirrhosis,... |
OMIM:256810 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Short neck, Cryptorchidism, Tall lumba... |
OMIM:102500 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Lumbar hyperlordosis, Short neck, Cryptorchidism, Generalized joint laxity, Increased... |
ORPHA:251028 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Pl... |
OMIM:616507 |
Brittle Cornea Syndrome |
|
Osteoporosis, Corneal scarring, Increased susceptibility to fractures, Joint hyperflexibility, He... |
ORPHA:90354 |
Immunodeficiency 17 |
|
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... |
OMIM:615607 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Elevated circulating parathyro... |
OMIM:613388 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... |
OMIM:300554 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Congenital contracture, Thymus hyperplasia |
OMIM:619036 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abnormal dental enamel morpholo... |
ORPHA:221016 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Thrombocytopenia, Enlarged tonsils, Leukopenia, ... |
ORPHA:2785 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Short neck |
OMIM:617666 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Inguinal hernia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Congenit... |
OMIM:245600 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Sacral dimple, Recurrent fractures, Camptodactyly of f... |
ORPHA:3206 |
Keppen-Lubinsky Syndrome |
|
Failure to thrive, Lipodystrophy, Flexion contracture, Increased susceptibility to fractures, Los... |
ORPHA:435628 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Congenital kyphoscoliosis, Recurrent fractures, Craniosy... |
ORPHA:536467 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopen... |
ORPHA:77293 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Recurrent fractures, Delayed skeletal maturation, Elevated circul... |
OMIM:601812 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Limb pain, Pathologic fracture, Osteomyelitis |
ORPHA:36386 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Lymphadenopathy, Re... |
ORPHA:667 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Neonatal... |
OMIM:601186 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture |
OMIM:607278 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:478 |
Lysinuric Protein Intolerance |
|
Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Thrombocytopenia... |
ORPHA:470 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hypoparathyroidism, Knee flexion contracture, Pathologic fracture |
OMIM:156400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Cryptor... |
OMIM:309583 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to... |
ORPHA:2769 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Small for gestational age, Short neck, Cryptorc... |
OMIM:264090 |
Osteoglophonic Dysplasia |
|
Osteopenia, Inguinal hernia, Camptodactyly of finger, Craniosynostosis, Short neck, Cryptorchidis... |
OMIM:166250 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Flexion contracture, Multiple prenatal fractures |
OMIM:271225 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Increased c... |
ORPHA:171430 |
Marshall-Smith Syndrome |
|
Omphalocele, Failure to thrive, Decreased hip abduction, Large sternal ossification centers, Recu... |
OMIM:602535 |
Monosomy 22 |
|
Aplasia of the thymus, Short neck, Hypochromic microcytic anemia, Hepatosplenomegaly, Contracture... |
ORPHA:96123 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Precocious puberty, Hypophosphatemic rickets |
OMIM:163200 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... |
OMIM:300009 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Failure to thrive, Wrist flexio... |
OMIM:609465 |
Eec Syndrome |
|
Anterior hypopituitarism, Abnormal dental enamel morphology, Hypoplasia of the thymus, Decreased ... |
ORPHA:1896 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Death in infancy, Osteomalacia, Abnormal dental enamel morphology, Cryptorch... |
ORPHA:534 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... |
ORPHA:699 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow fl... |
OMIM:601559 |
Brittle Cornea Syndrome 2 |
|
Umbilical hernia, Inguinal hernia, Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Cleidocranial Dysplasia |
|
Abnormal dental enamel morphology, Recurrent fractures, Abnormal sacrum morphology, Osteoporosis,... |
ORPHA:1452 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Elbow ankylosis |
ORPHA:83 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Recurrent fractures, Joint hypermobility |
OMIM:619120 |
Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures, Intrauterine growth retardation, Vertebral compression fracture, Kyp... |
OMIM:618644 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Thoracic scoliosis, Recurrent fractures |
OMIM:606056 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Grange Syndrome |
|
Decreased body weight, Recurrent fractures, Increased susceptibility to fractures |
OMIM:602531 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616866 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Scoliosis, Tracheo... |
ORPHA:140 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy... |
OMIM:271640 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Supernumerary nipple, Joint hypermobility, Six lumbar vertebrae |
OMIM:619122 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormality of the vertebral spinous processes, Osteoporosis, Increased susceptibilit... |
ORPHA:909 |
Classic Homocystinuria |
|
Hepatomegaly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Hernia, Scoliosis |
ORPHA:394 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Accelerated skeletal maturation,... |
OMIM:130070 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Osteo... |
OMIM:307030 |
Menkes Disease |
|
Inguinal hernia, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Atypical sc... |
ORPHA:565 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Recurrent fractures, Osteolysis, Scoliosis, Avascular necrosis |
ORPHA:1764 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... |
OMIM:119600 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Cryptorchidism, Precoc... |
ORPHA:636 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Osteomalacia, Cryptorchidism, Kyphosis, Rickets, Corn... |
OMIM:309000 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Death in infancy, Recurrent fractures, Multiple prenatal fractures, Decreased calvari... |
OMIM:610682 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures |
OMIM:133780 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... |
ORPHA:1652 |
X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Kyphoscoliosis, Cryptorchidism, Kyphosis, Osteoporosis, Abnormality of the L... |
ORPHA:3063 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism, Pathologic fracture |
OMIM:614231 |
Truncus Arteriosus |
|
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Cryptorchidism, Reduced bone mineral density, Abdominal situs inversus, Trac... |
ORPHA:2108 |
Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Craniosynostosis, Joint st... |
ORPHA:744 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vert... |
OMIM:271520 |
Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Bone pain, Weight loss, Increased susceptibility to fractures, Hypophosphatemic ric... |
ORPHA:3337 |
3Q29 Microdeletion Syndrome |
|
Joint hyperflexibility, Failure to thrive, Six lumbar vertebrae |
ORPHA:65286 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Bone pain, Recurrent fractures |
ORPHA:416 |
Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Radioulnar synostosis, Supernumerary nipple, Supernumerary vertebrae |
OMIM:263750 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... |
OMIM:620186 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Bone pain |
OMIM:259900 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Hernia, Pathologic fracture, Intrauterine growth retardation |
ORPHA:90349 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Inguinal hernia, Supernumerary nipple, Congenital diaphragmatic hernia, Accelerated... |
OMIM:312870 |
Mowat-Wilson Syndrome |
|
Recurrent fractures, Asplenia, Cryptorchidism, Delayed skeletal maturation, Flexion contracture, ... |
ORPHA:2152 |
Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae |
OMIM:193500 |