Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
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Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Radioulnar synostosis, Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... |
OMIM:128100 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Horizontal ribs, Hyperhomocystinemia,... |
OMIM:614857 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention... |
OMIM:610539 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Pectu... |
ORPHA:1979 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Osteolysis, Abnormal fo... |
ORPHA:93160 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Clavicular pseudarthros... |
OMIM:156530 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal form of the v... |
ORPHA:2180 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Failure to thrive |
ORPHA:1703 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Becker Nevus Syndrome |
|
Lipoatrophy, Hypermelanotic macule, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Sup... |
ORPHA:64755 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Omphalocele, Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Na... |
ORPHA:93267 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... |
OMIM:600081 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma |
OMIM:107550 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Eunuchoid habitus, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verte... |
ORPHA:2234 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia, Increased susceptibility to fractures |
OMIM:304700 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... |
ORPHA:168549 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
Achondrogenesis Type 1B |
|
Femoral hernia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morpholo... |
ORPHA:93298 |
Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Hypercalcemia, Abnormal rib ... |
ORPHA:436 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Enlargement of the costochondral... |
OMIM:241530 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Jo... |
OMIM:619122 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Inguinal hernia, Abnormal intervertebral disk morphology, Camptod... |
ORPHA:2311 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Opisthotonus, Increased susceptibility to fractures, Pigmentary retinopathy... |
ORPHA:216866 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of finger, Joint stif... |
ORPHA:628 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... |
OMIM:264700 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ... |
OMIM:166210 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Recurrent fractures, Short neck, Abnormal enchondral ossi... |
ORPHA:93299 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Recurrent fractures, Short neck, Camptodactyly of finger, Joint stiffne... |
ORPHA:2176 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormal ... |
ORPHA:1486 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal oss... |
ORPHA:289157 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of... |
ORPHA:249 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Osteoporosis, Pectus carin... |
ORPHA:93351 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Small for gestational age, Recurrent fractures, Beaded ribs, ... |
OMIM:616229 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Short tho... |
ORPHA:582 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-rea... |
OMIM:612852 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Abnormal posturing, Anemia, Decreased cervical spine mobility |
ORPHA:71272 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Obesity, Thin ribs, Irregular vertebral endplates, Platyspondyly, Delay... |
OMIM:618395 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1488 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyperflexibility, Narrow chest,... |
ORPHA:2097 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
3Q29 Microdeletion Syndrome |
|
Pectus excavatum, Pectus carinatum, Abnormality of skin pigmentation, Joint hyperflexibility, Six... |
ORPHA:65286 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... |
OMIM:193500 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segme... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... |
OMIM:615633 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Scoliosis, Hypocholesterolemia |
OMIM:610883 |
White Forelock With Malformations |
|
Abnormal rib morphology, Joint hyperflexibility, White forelock, Sprengel anomaly, Spina bifida o... |
ORPHA:2475 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junct... |
OMIM:277440 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Abnormal posturing, Weight loss |
ORPHA:157941 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Deformed rib cage, Leukope... |
ORPHA:811 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Scoliosis, Neutro... |
OMIM:612562 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of t... |
OMIM:253000 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Delayed ossifica... |
OMIM:609616 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Fractured radius, Small for gestational age, Short neck, Bead... |
OMIM:616897 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Anterior rib cupping, Ovoid vert... |
OMIM:260400 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects... |
ORPHA:2484 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Steatorrhea, Failu... |
OMIM:246700 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... |
OMIM:612561 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Sc... |
OMIM:252900 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave ve... |
OMIM:617952 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Thin... |
OMIM:259420 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly, Hernia, Broad ribs, ... |
ORPHA:583 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae |
OMIM:173800 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... |
ORPHA:2759 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Short thorax, Abnormal rib mor... |
ORPHA:474 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroi... |
ORPHA:89936 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Failur... |
OMIM:560000 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic scars, Enamel hypoplasia, ... |
ORPHA:79402 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... |
ORPHA:2021 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Thin bony cortex, Inguinal ... |
OMIM:613848 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia |
OMIM:237450 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... |
OMIM:200600 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Lymphopenia, Macrocytic anemia, Lumbar hyperlordosis, Impaired lymphocyte transform... |
OMIM:250250 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Her... |
OMIM:252930 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thrive, Hypocholest... |
OMIM:607765 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:392 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... |
ORPHA:79345 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple pre... |
OMIM:610915 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Splenomegaly, Reduced bone mineral density, Abnormality of skin pig... |
ORPHA:834 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... |
ORPHA:239 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Failure to thrive, Short neck, Congenital hypoplastic anemia... |
OMIM:105650 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sa... |
ORPHA:175 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Lipodystrophy, Kyphoscoliosis, Flexion contracture, Abnormality of skin pigmentation,... |
ORPHA:75496 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Renpenning Syndrome |
|
Cachexia, Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly |
ORPHA:3242 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... |
OMIM:151210 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive |
OMIM:211600 |
Prune Belly Syndrome |
|
Pectus excavatum, Abnormal rib morphology, Vertebral segmentation defect, Scoliosis, Failure to t... |
ORPHA:2970 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... |
OMIM:224300 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Obesity, Choreoathetosis, Scoliosi... |
ORPHA:261197 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification, Abnormalit... |
OMIM:300244 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
3M Syndrome |
|
Scapular winging, Abnormal dental enamel morphology, Short neck, Hyperlordosis, Increased vertebr... |
ORPHA:2616 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Joint laxity, Scoliosis |
ORPHA:457260 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormality of the spleen... |
ORPHA:1834 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Thrombo... |
OMIM:611209 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal... |
OMIM:616294 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... |
OMIM:215140 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolys... |
OMIM:614008 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Tremor, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture,... |
OMIM:212065 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Hypop... |
ORPHA:96061 |
Dyggve-Melchior-Clausen Disease |
|
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Multicentric ossification of pro... |
OMIM:223800 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Kyphosis, Abnormal rib morphology, Pectus carinatum, Hernia of the abdominal wall |
ORPHA:3082 |
Juberg-Hayward Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis |
ORPHA:2319 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia... |
OMIM:253010 |
Pontine Tegmental Cap Dysplasia |
|
Head titubation, Rib fusion, Hemivertebrae, Scoliosis, Failure to thrive |
OMIM:614688 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicl... |
OMIM:228520 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Sho... |
OMIM:612921 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Stea... |
OMIM:212750 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated ... |
OMIM:230500 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Abnormal dental enamel morphology, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:2050 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense calvaria |
OMIM:252920 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Inguinal hernia, Leukocytosis, Decreased body weight, Allodynia |
ORPHA:51890 |
Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... |
ORPHA:2876 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Abnormal rib morphology, Neutropenia |
ORPHA:2643 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia of t... |
ORPHA:562 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Short neck, Erythroid h... |
ORPHA:124 |
Occipital Horn Syndrome |
|
Osteopenia, Pectus carinatum, Narrow chest, Femoral hernia, Osteomalacia, Aplastic clavicle, Hiat... |
ORPHA:198 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Thin ribs, Hypocalcemia, Hypomagnesemia, Decreased skull ossifica... |
OMIM:244460 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hyperbilirubin... |
ORPHA:79303 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Congenital diaphragmatic h... |
ORPHA:2911 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Short neck, Pectus carinatum, Wrist flexion c... |
ORPHA:800 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Small for gestational age, Pectus excava... |
OMIM:613658 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ... |
ORPHA:3068 |
Abetalipoproteinemia |
|
Osteopenia, Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholesterol conce... |
ORPHA:14 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Reticular hyperpigmentation, Premature graying o... |
OMIM:127550 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Pectus excavatum, Thin ribs, Lumbar hemivertebrae, Loss of truncal... |
ORPHA:2463 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... |
OMIM:619698 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Splenomegaly, Limitation of jo... |
ORPHA:93473 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion con... |
OMIM:300232 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal... |
ORPHA:2769 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hyperlipidemia, Reduced bone mineral density, Abnormality of skin pigmentation, Mul... |
ORPHA:1414 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Decreased calvarial ossification, Decreased body weight, Arthrogrypo... |
OMIM:618265 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal dental enamel morphol... |
ORPHA:1452 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... |
OMIM:312150 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive |
ORPHA:71 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Hyperostosis, Narro... |
ORPHA:73230 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic... |
ORPHA:93324 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Congenital diaphragmatic hernia, Short neck, ... |
ORPHA:958 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies... |
ORPHA:3258 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Oslam Syndrome |
|
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Postaxial Acrofacial Dysostosis |
|
Pectus excavatum, Radioulnar synostosis, Supernumerary vertebrae |
OMIM:263750 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Trisomy 13 |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Hernia, Scoliosis |
ORPHA:3378 |
Vici Syndrome |
|
Hypopigmentation of hair, Failure to thrive, Elevated circulating creatine kinase concentration, ... |
OMIM:242840 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulat... |
OMIM:309000 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... |
OMIM:305620 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Broad ribs, Thin bony cortex |
ORPHA:85184 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok... |
OMIM:227810 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, Platyspondyly, ... |
ORPHA:1517 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... |
ORPHA:666 |
Wilson Disease |
|
Hemolytic anemia, Dystonia, Decreased circulating ceruloplasmin concentration, Osteomalacia, Hypo... |
OMIM:277900 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Dystonia, Titubation |
ORPHA:225147 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... |
OMIM:213980 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Alg12-Cdg |
|
Hyponatremia, Camptodactyly, B lymphocytopenia, Abnormal adipose tissue morphology, Scoliosis, Ab... |
ORPHA:79324 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... |
OMIM:253290 |
Alagille Syndrome |
|
Failure to thrive, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segm... |
ORPHA:52 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Hyponatremia, Osteomalacia, Abnormal dental enamel morphology, Abnormal rib morpho... |
ORPHA:534 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... |
OMIM:615368 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Cystinosis |
|
Hypokalemia, Failure to thrive, Rickets, Hypophosphatemia |
ORPHA:213 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Cronkhite-Canada Syndrome |
|
Generalized hyperpigmentation, Cachexia, Splenomegaly, Abnormality of skin pigmentation, Anemia |
ORPHA:2930 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Thrombocytopenia, Increased mean corpuscular volume, Scoliosis |
ORPHA:261250 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Lateral clavicle hook, Pectus excava... |
OMIM:182212 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Splenomegaly, Flexion contracture, ... |
OMIM:608149 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Joint contracture of the hand, Foot joint contracture, Hypopigm... |
ORPHA:220402 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... |
OMIM:620076 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi... |
ORPHA:254534 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondroco... |
OMIM:250420 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyly ... |
ORPHA:90652 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology, Congenital diaphragmatic hernia |
ORPHA:1120 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thoracic platysp... |
OMIM:618019 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morphology, Ab... |
ORPHA:2215 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Failure to thrive, Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Limitation of join... |
ORPHA:2990 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Opisthotonus, Scoliosis, Ar... |
ORPHA:2671 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Abnormal rib morphology, Abnormality of the vertebral column, Neutro... |
ORPHA:1163 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive |
ORPHA:2088 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Flexion contracture, Thin ribs |
OMIM:614833 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Rickets, Hypophosphatemia, Hypophosphatemic rickets, Rachitic rosary |
OMIM:612089 |
Occipital Horn Syndrome |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... |
OMIM:304150 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Stiff neck, Torticollis, Short neck, Hypoplasia of the thymus, N... |
OMIM:617022 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... |
OMIM:109400 |
Craniolenticulosutural Dysplasia |
|
Posterior wedging of vertebral bodies, Abnormality of skin pigmentation, Joint hyperflexibility, ... |
ORPHA:50814 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs |
OMIM:200610 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Ab... |
ORPHA:50 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia |
OMIM:152800 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Long clavicles, Multiple joint contractures, Thoracolumbar scoliosis, Down-slopi... |
OMIM:265000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cupped ribs, ... |
OMIM:271640 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Steatorrhea |
ORPHA:309031 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Craniosynostosis, Short ribs, Scoliosis, Broad ribs |
OMIM:252600 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Meier-Gorlin Syndrome 1 |
|
Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Lateral ... |
OMIM:224690 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ribs, Cervical ribs, Oste... |
OMIM:601812 |
Gracile Bone Dysplasia |
|
Asplenia, Thin ribs, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to t... |
OMIM:602361 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
Kaufman Oculocerebrofacial Syndrome |
|
Bell-shaped thorax, Failure to thrive, Ovoid vertebral bodies, Hypocholesterolemia |
OMIM:244450 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Hypopigmented skin patches, Congenital diaphragmatic hernia, Missing ribs |
ORPHA:1647 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... |
ORPHA:3003 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Camptodactyly of finger, Abnormality of skin pigmentation, Scolios... |
ORPHA:2135 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Large for gestational age, Abnormal rib morphology, Joint... |
ORPHA:77301 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Kyphoscoliosis, Short neck, Large for gestational age, Limitation o... |
ORPHA:254519 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Recurrent fractures, Undulate ribs, Thin ribs, Subperiosteal bone fo... |
OMIM:618188 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hypouricemia, Rickets, Large for gestational age |
OMIM:616026 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy, Pectus excavatum, Kyphosis, Ob... |
ORPHA:193 |
Vacterl/Vater Association |
|
Omphalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Abnormal s... |
ORPHA:887 |
Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, A... |
OMIM:253200 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ... |
OMIM:219800 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short neck, Joint stiffness... |
OMIM:252940 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con... |
ORPHA:171430 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, ... |
OMIM:269500 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Omphalocele, Inguinal hernia, Pectus excavatum, Flexion contracture, Prominent ster... |
ORPHA:254528 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Failure to thrive, Inguinal hernia, Broad ... |
OMIM:151050 |
Stuve-Wiedemann Syndrome 1 |
|
Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow flexion contracture,... |
OMIM:601559 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... |
ORPHA:263508 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... |
ORPHA:18 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Thickened ribs, Craniosynostosis, Short neck, Pectus exca... |
ORPHA:309282 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad ribs, Sclerosis of skull base, Scoliosis |
OMIM:269300 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs |
ORPHA:163966 |
Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Short thorax, Abnormal rib... |
ORPHA:261344 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Hyperlordosis, Pectus excavatum, Thin ribs, Choreoathetosis, Abnormal ... |
OMIM:234100 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Failure to thrive, Tracheomalacia, Pectus excavatum, Craniofacial osteosclerosis, St... |
OMIM:300373 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Spleno... |
ORPHA:581 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormal ... |
ORPHA:2092 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Eosinophilia, Abnormal dental enamel morphology, Hypopigmented skin patc... |
ORPHA:464 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Hypoplastic scapulae, Tarsal synostosis, Craniosynostosis, ... |
ORPHA:95699 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Abnormality of skin... |
OMIM:227650 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Abnormal rib morphology, Reduced bon... |
ORPHA:667 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Abnorma... |
ORPHA:280 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Nonketotic hyperglycinemia, Scoliosis, Joint stiffness |
ORPHA:1300 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Congenital diaphragmatic hernia, Hemivertebra... |
OMIM:200980 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... |
OMIM:600920 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica... |
OMIM:114290 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosi... |
ORPHA:85167 |
Dent Disease |
|
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... |
ORPHA:1652 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Hemivertebrae, Rib fusion, Supernumerary ribs, Bifi... |
OMIM:304050 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Splenopancr... |
OMIM:269150 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Large for gestational age, Flexion contracture, Hemivertebrae, Narrow chest, Interpha... |
ORPHA:96334 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Bone spicule pigmentation of the retina, Rickets, Recurrent fractures |
OMIM:268315 |
Autosomal Dominant Centronuclear Myopathy |
|
Large for gestational age, Mildly elevated creatine kinase, Thin ribs |
ORPHA:169189 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... |
OMIM:607778 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Tremor, Kyphosis, Splenomegaly, L... |
OMIM:133540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypopigmentation of the skin, Hyperlordosis, Obesity, Hepatosplenomegaly, Umbilical hernia, Broad... |
OMIM:301066 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Pectus excavatum, Multiple prenatal frac... |
OMIM:610682 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,... |
ORPHA:411629 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Platysp... |
OMIM:211350 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Calcaneal epip... |
OMIM:117650 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Delayed tarsal ossificatio... |
OMIM:600002 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short neck, Splenomegaly, Short thorax, Thora... |
OMIM:269860 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Joint stiffness, Abnormal rib morphol... |
ORPHA:2588 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3015 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... |
ORPHA:2636 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs, Thin bony co... |
OMIM:277600 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Incontinentia Pigmenti |
|
Eosinophilia, Kyphoscoliosis, Scarring, Leukocytosis, Hemivertebrae, Abnormality of skin pigmenta... |
OMIM:308300 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Thoracolumbar scoliosis, Sho... |
OMIM:268310 |
Xylt1-Cdg |
|
Joint laxity, Broad ribs, Truncal obesity, Short clavicles |
ORPHA:370930 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Proteus Syndrome |
|
Central heterochromia, Abnormal form of the vertebral bodies, Abnormality of skin pigmentation, A... |
ORPHA:744 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Tremor, Retinal pigment epithelial mottling... |
OMIM:216400 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Rib fusion, Inguinal hernia, Large for gestational age |
ORPHA:544488 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Pigmentary retinopathy, Hypercholes... |
OMIM:118450 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Pectus exc... |
ORPHA:2785 |
Trisomy 18 |
|
Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmat... |
ORPHA:3380 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... |
ORPHA:355 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Weight loss, Increased susceptibility to fractures, H... |
ORPHA:3337 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Osteoporosis, Thin ribs, Platyspondyly... |
OMIM:225400 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Abnormal rib morphology, Spina bifida occulta, Thickened cortex of long b... |
ORPHA:488434 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Pectus excavatum, Splenomegaly, Pectus carinatu... |
OMIM:312870 |
Dubowitz Syndrome |
|
Sacral dimple, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolemia |
OMIM:223370 |
Alkaptonuria |
|
Joint stiffness, Osteoarthritis, Reduced bone mineral density, Abnormality of skin pigmentation, ... |
ORPHA:56 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... |
ORPHA:373 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... |
OMIM:263520 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis |
OMIM:148050 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Pectus excavatum, Kyphosis, ... |
ORPHA:1507 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Rickets |
OMIM:219900 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Joint stiffness, Elbow flexion contracture, Spinal canal stenosis, Umbilica... |
OMIM:608328 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Limitation of joint mobility, Abnormal rib morpholog... |
ORPHA:261112 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... |
OMIM:250220 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Limited elbow movement, Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae... |
OMIM:134780 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Severe B lymphocytopenia, Contracture of the distal interphalang... |
ORPHA:83617 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Horizontal ribs |
OMIM:613091 |
Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Short neck, Joint stiffness, Limitation of joint mob... |
OMIM:139210 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Elevated hemoglobin A1c, Joint stiffness, Pectus excavatum, Fle... |
OMIM:619127 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Splenomegaly, Hypocalcemic seizures,... |
OMIM:612301 |
Myotubular Myopathy With Abnormal Genital Development |
|
Joint hypermobility, Thin ribs |
OMIM:300219 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Decreased calvarial ossification, Long thorax, Narrow chest, S... |
OMIM:617925 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Abnormal rib morphology, Hypopigmented skin patches, Joint hyperflexibil... |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contracture, Abnormal rib mor... |
ORPHA:2908 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Cervical ribs, Scolio... |
OMIM:617140 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Sho... |
ORPHA:818 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Sacrococcygeal teratoma, Inguinal hernia, Failure to thrive in infa... |
ORPHA:798 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Short nec... |
OMIM:208150 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Missing ribs, Rib fusion, He... |
ORPHA:97360 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Thin ribs |
OMIM:617397 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures, Lipo... |
ORPHA:405 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Fused cervical vert... |
OMIM:157800 |
Fryns Syndrome |
|
Omphalocele, Short neck, Large for gestational age, Thin ribs, Aplasia of the left hemidiaphragm,... |
OMIM:229850 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph... |
OMIM:208500 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormality of retinal pigmentation, Inguinal hernia, Thickened ribs, Camptodactyly of finger, Sp... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormality of retinal pigmentation, Inguinal hernia, Thickened ribs, Camptodactyly of finger, Sp... |
ORPHA:217093 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Inguinal hernia, Craniosynostosis, Short neck, Pectus excavatum, Splenomegaly, Shor... |
OMIM:613610 |
Smith-Lemli-Opitz Syndrome |
|
Sacral dimple, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydr... |
OMIM:270400 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Unicoronal synostosis, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs |
OMIM:616300 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abnormality of the spleen, Osteolysis, Atypical scarring of skin, Ar... |
ORPHA:228123 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Abnormal rib morphology, Joint hype... |
ORPHA:2554 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Pectus carinatum, Short ribs, Narrow chest, Horizontal ribs |
OMIM:225500 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Accessory spleen, Small for gest... |
OMIM:194190 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... |
OMIM:264090 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Platyspondyly, Sclerosis of skull base, Broad ribs, Thin bony cortex |
OMIM:619727 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, ... |
ORPHA:1606 |
Vater/Vacterl Association |
|
Abnormal rib morphology, Radioulnar synostosis, Abnormal sternum morphology, Scoliosis, Failure t... |
OMIM:192350 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Pilonidal sinus, Broad clavicles, Congenital pseudoarthrosis of the clavicle... |
OMIM:276820 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Inguinal hernia, Craniosynostosis, Short neck, Pectus excavatum, Undulate ribs, Knee... |
OMIM:609945 |
Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Rib fusion, Hemivertebrae |
OMIM:146510 |
Generalized Arterial Calcification Of Infancy |
|
Failure to thrive in infancy, Osteomalacia, Stippled calcification of the shoulder, Abnormal calc... |
ORPHA:51608 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Dextrocardia |
|
Abnormality of the spleen, Abnormal rib morphology |
ORPHA:1666 |
Ulbright-Hodes Syndrome |
|
Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... |
ORPHA:3404 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Rib fusion, Limited shoulder... |
OMIM:218600 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Charge Syndrome |
|
Abnormality of bone mineral density, Abnormal rib morphology, Hemivertebrae, Scoliosis |
ORPHA:138 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the sp... |
ORPHA:991 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sagittal craniosynostosis, Ri... |
ORPHA:500150 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs |
OMIM:617088 |
Charge Syndrome |
|
Omphalocele, Down-sloping shoulders, Abnormal rib morphology, Hemivertebrae, Hypocalcemia, Scolio... |
OMIM:214800 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Rib fusion, Obesity, Scoliosis, Bifid ribs, Camptodactyly |
OMIM:607872 |
Townes-Brocks Syndrome |
|
Failure to thrive, Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |
Pallister-Hall Syndrome |
|
Inguinal hernia, Large for gestational age, Rib fusion, Hemivertebrae, Distal arthrogryposis, Umb... |
ORPHA:672 |