Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... |
OMIM:228600 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia |
ORPHA:100024 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... |
ORPHA:668 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Juvenile Hyaline Fibromatosis |
|
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... |
ORPHA:1525 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia |
ORPHA:158014 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Nephrosialidosis |
|
Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Death in c... |
OMIM:256150 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteolysis, Slende... |
ORPHA:2774 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
Osteoarthritis With Mild Chondrodysplasia |
|
Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Ollier Disease |
|
Micromelia, Joint stiffness, Osteolysis, Abnormal metaphysis morphology, Anemia |
ORPHA:296 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Ramon Syndrome |
|
Failure to thrive, Osteolysis |
ORPHA:3019 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Osteolysis, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
Ck Syndrome |
|
Micrognathia, Abnormal digit morphology, Abnormal cortical bone morphology, Slender build, Joint ... |
OMIM:300831 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Limitation of joint mobi... |
ORPHA:66627 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... |
ORPHA:2097 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb... |
ORPHA:93160 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Edema, Hypoplasia of the iris, Death in chi... |
OMIM:609049 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Small for gestational age, Slender long bones with narrow di... |
ORPHA:50811 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormal foot morphology, Osteoarthritis, Osteolysis, Abnormal diaphysis morph... |
ORPHA:1657 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh... |
OMIM:618392 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... |
ORPHA:1486 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, Partial atrioventricular... |
OMIM:615996 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci... |
OMIM:176920 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Osteolysis, Weight loss |
ORPHA:391 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:241530 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Irregular vertebral endplates, Platyspondyly, Thor... |
OMIM:609223 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis, Micrognathia |
OMIM:176670 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
ORPHA:50809 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Micrognathia, F... |
OMIM:617952 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morpho... |
ORPHA:137834 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polycystic kidney dys... |
OMIM:613885 |
Joubert Syndrome 22 |
|
Renal hypoplasia, Coloboma, Retinal dysplasia, Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Short stature, Renal hypoplasia |
OMIM:618681 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Renal dysplasia, Optic nerve hypoplasia, Cr... |
ORPHA:85284 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Failure to thrive in infancy, Splenomegaly, Per... |
OMIM:612852 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Infantile Myofibromatosis |
|
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Death in infancy, Polyhydramnios, Renal hypoplasia, Renal cyst... |
OMIM:614922 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Increased suscepti... |
ORPHA:52430 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... |
OMIM:616583 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Intrauterine growth retardation |
OMIM:617564 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E... |
ORPHA:2485 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, C... |
ORPHA:2484 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... |
OMIM:617661 |
Papillorenal Syndrome |
|
Edema, Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Sho... |
OMIM:120330 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... |
OMIM:616897 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Slc35A2-Cdg |
|
Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ... |
ORPHA:356961 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement |
ORPHA:163665 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... |
OMIM:609324 |
Felty Syndrome |
|
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Anemia, Arthritis... |
ORPHA:47612 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy, Oligohydr... |
OMIM:619053 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m... |
ORPHA:99642 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Perica... |
OMIM:619487 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Congenital diaphragmatic hernia, Pulmonary artery atresia, Neonatal death, Atrial s... |
OMIM:601186 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Renal hypoplasia, Atrial septa... |
OMIM:612946 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with na... |
OMIM:608154 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Verheij Syndrome |
|
Branchial cyst, Renal agenesis, Optic nerve hypoplasia, Ventricular septal defect, Short stature,... |
OMIM:615583 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... |
ORPHA:1856 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... |
ORPHA:2796 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morphology, Coxa vara, Abn... |
ORPHA:1988 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t... |
OMIM:208540 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Art... |
OMIM:236500 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Death in infancy, Ventricular septal defect, Ectopic kidney, Cry... |
OMIM:613730 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology... |
OMIM:608776 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia |
OMIM:193100 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased nuchal translucen... |
OMIM:618494 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... |
ORPHA:77259 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... |
OMIM:146300 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Ab... |
ORPHA:281 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Renal hypoplasia, Small thenar eminence, Umbilical hernia, Joint contracture of th... |
OMIM:618914 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
Even-Plus Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Severe short stature, Renal hypoplasia,... |
OMIM:616854 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of... |
OMIM:609616 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Hydrops Fetalis |
|
Miscarriage, Abnormality of the kidney, Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmu... |
ORPHA:1041 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... |
OMIM:619489 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma,... |
ORPHA:195 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglu... |
ORPHA:254913 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Osteolysis |
ORPHA:659 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Abnormal mesenter... |
ORPHA:2256 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Sea-blue histiocytosis, ... |
OMIM:230600 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat... |
OMIM:610967 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Cach Syndrome |
|
Flexion contracture, Optic atrophy, Renal hypoplasia, Hepatosplenomegaly, Growth delay, Optic neu... |
ORPHA:135 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolysis, Ost... |
ORPHA:90154 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Intrauterine gr... |
OMIM:614702 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... |
OMIM:616589 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Decreased response to gr... |
OMIM:609053 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Short stature, Edema, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Rena... |
ORPHA:97362 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia |
OMIM:600151 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... |
OMIM:184250 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def... |
ORPHA:319195 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Flexion contracture, Limitation of joint mobility, Osteolysi... |
ORPHA:90153 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, S... |
OMIM:601559 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... |
OMIM:604273 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Bile duct prolife... |
OMIM:611134 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Limited elbow movement, Joint stiffness, Micrognathia, Flexion contracture, Os... |
OMIM:614008 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplas... |
ORPHA:2470 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Abnormal foot morphology, Hypopl... |
OMIM:184252 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum |
OMIM:619073 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Cryptorchidism, Micropenis |
OMIM:614684 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... |
OMIM:267010 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, S... |
OMIM:614376 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Ob... |
OMIM:618395 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Abnormal heart valve morphology, ... |
ORPHA:36412 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Diffuse Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Tetralogy of Fallot, Short stature, Renal hypoplasia |
OMIM:617926 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agene... |
OMIM:617914 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Distal Duplication 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... |
ORPHA:1745 |
Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Abnormality of the anterior ... |
ORPHA:75389 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... |
OMIM:618188 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Splenomegaly, Os... |
OMIM:228000 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Growth delay, Coloboma, Uraciluria, Microphthalmia |
OMIM:274270 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... |
ORPHA:56305 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Chromomycosis |
|
Ankylosis, Abnormality of the lower limb, Osteolysis, Abnormal foot morphology |
ORPHA:182 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho... |
ORPHA:83468 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Short stature, Urinary incontinence, Polyhydramnios, Pericardial effusion, Mult... |
OMIM:620070 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty, Abnormal heart morphology |
OMIM:233270 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia, Camptodactyly |
OMIM:246560 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Umbilica... |
ORPHA:171839 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Elevated u... |
OMIM:620089 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Burn-Mckeown Syndrome |
|
Short stature, Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Atrial sep... |
OMIM:608572 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Death in infancy, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dy... |
OMIM:619167 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Optic atrophy, Renal hypop... |
OMIM:617595 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia, Abnormal heart morphology |
OMIM:276950 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Short humerus, Short femur, Rhizomelia, Sandal gap, Small for ge... |
OMIM:607143 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platysp... |
OMIM:619131 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight |
OMIM:614886 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis, Palmoplantar hy... |
ORPHA:678 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Flexion contracture, Atrial septal defect, Contracture of the proximal interphalang... |
OMIM:300166 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Torticollis, Truncus arteriosus, Ventricular septal defect, U... |
OMIM:609029 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... |
OMIM:608940 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Kyphoscoliosis, ... |
OMIM:612350 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Pseudohypoparathyroidism, Renal hypoplasia, Coloboma, Vesicoureteral reflux |
ORPHA:464288 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Death in infancy, Proteinuria, Nonimmu... |
OMIM:212065 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology... |
ORPHA:363705 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmonary stenosis... |
OMIM:620185 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, R... |
OMIM:248700 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Atrial septal defect, Upper limb muscle hypoplasia, Optic disc hypoplasia, Ren... |
OMIM:607323 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly |
ORPHA:93283 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m... |
ORPHA:85198 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Short stature, Cryptorchidism, Renal hypoplasia, Growth delay, Delay... |
OMIM:616817 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Microphthalmia, Int... |
OMIM:603194 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete ... |
OMIM:264480 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractur... |
ORPHA:1652 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin... |
OMIM:255800 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ... |
OMIM:184100 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Short stature, Decreased response to growth hormone stimulation test, Polyh... |
OMIM:603467 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali... |
OMIM:201170 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility |
ORPHA:168555 |
Senior-Loken Syndrome |
|
Cone-shaped epiphysis, Abnormality of bone mineral density |
ORPHA:3156 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Atrial septal d... |
OMIM:235510 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f... |
ORPHA:163649 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney |
OMIM:212780 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Edema, Pericardial effusion, Raynaud phen... |
ORPHA:93552 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnor... |
ORPHA:93315 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t... |
ORPHA:37553 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation,... |
OMIM:616258 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Abnormal epiphysis morpho... |
ORPHA:35687 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fibe... |
OMIM:252011 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis |
ORPHA:71267 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Renal cyst, Bile duct proliferation, Microphthalmia |
OMIM:611561 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, C... |
OMIM:618183 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
H Syndrome |
|
Hallux valgus, Pes planus, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly... |
ORPHA:168569 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Failure to thrive, Rickets |
OMIM:211600 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis |
ORPHA:809 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Pericardial effusion, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Polyhydramnios, Abnormality of the pancreas, Abnormal liver parench... |
ORPHA:3032 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Mungan Syndrome |
|
Tricuspid regurgitation, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic ste... |
OMIM:611376 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Chor... |
OMIM:610688 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Short femoral n... |
ORPHA:2848 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Short neck, Plat... |
ORPHA:93267 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Unilateral renal ... |
OMIM:619955 |
Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Unilateral renal agen... |
ORPHA:96170 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Short stature, Renal hypoplasia, Spinal dysraphism, Aortic valve stenosis, ... |
OMIM:617660 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca... |
ORPHA:1901 |
Biemond Syndrome Type 2 |
|
Hypospadias, Short stature, Coloboma, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... |
OMIM:618775 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Retinal nonattachment, Buphthal... |
OMIM:221900 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni... |
OMIM:617784 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Decreased skull ossification, Parti... |
ORPHA:955 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ... |
OMIM:607361 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Telangiectasia of the skin, Cryptorchidi... |
ORPHA:85321 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati... |
OMIM:156550 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Mild postnatal growth retardation, Flexion contracture, Retinal degenera... |
ORPHA:90324 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Raynaud phenomenon, Cryptorchidism, Rhabdomyosarcoma, Renal transitiona... |
ORPHA:2874 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Short stature |
OMIM:257910 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Recurrent fractures, Talipes, Hip dislocation, Osteoporo... |
ORPHA:2078 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Horses... |
OMIM:619318 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Ventricular septal defect, Decreased response t... |
OMIM:146510 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Chorioretinal ... |
OMIM:118450 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis |
ORPHA:85174 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita, Edema, Intrauterine growth retardation |
OMIM:616570 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... |
OMIM:239850 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hydrops fetalis, Hepatic fibrosis, Poly... |
OMIM:614091 |
Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br... |
OMIM:615222 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Microphthalmia, Intra... |
ORPHA:2714 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Sever... |
OMIM:266810 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic ... |
OMIM:612731 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increa... |
OMIM:256050 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy... |
OMIM:619003 |
Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Sh... |
OMIM:607095 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... |
OMIM:615220 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Short stature, Ectopic kidney, Abnormality of the spleen, Renal hypoplas... |
ORPHA:94063 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Abnormality of the upp... |
ORPHA:2547 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Small for... |
OMIM:616229 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... |
ORPHA:2176 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Sh... |
OMIM:618460 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:1473 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Coloboma, Abnormal optic disc morphology, Atrioventricular canal defect, P... |
ORPHA:508498 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Short neck, Cranial hy... |
ORPHA:309282 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity |
OMIM:616629 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness |
ORPHA:1345 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Abnormal retinal vascular morphology, Cryptorchidism, Pa... |
ORPHA:3378 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Patent ductus arter... |
OMIM:269860 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ... |
OMIM:605822 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Seckel Syndrome 2 |
|
Hypospadias, Short stature, Ectopic kidney, Heart murmur, Growth delay, Microphthalmia |
OMIM:606744 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa valga, Decreased ... |
OMIM:617425 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplasi... |
ORPHA:221016 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria... |
OMIM:208500 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy,... |
OMIM:616541 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Dilation of Virchow-Robin spaces, Remnants of the hyaloid vascular system, Optic n... |
OMIM:603671 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph... |
ORPHA:221008 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Ren... |
OMIM:613390 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis |
ORPHA:1764 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, J... |
ORPHA:858 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Osteolysis, Abnormal form of the verte... |
ORPHA:3042 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Plantar hyperkeratosis, ... |
ORPHA:2909 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Hydronephrosis, Myopathy, S... |
OMIM:243605 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Renal hypoplasia |
ORPHA:1307 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font... |
OMIM:620099 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... |
OMIM:151210 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
ORPHA:84064 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Na... |
OMIM:602271 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Micropenis, Webbed neck, Arthrogryposis multiplex congenita, Pleural... |
OMIM:617822 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Dysuria, Renovascular hypertension, Renal tubular e... |
ORPHA:49041 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... |
OMIM:619534 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Craniosynostosis, V... |
OMIM:241500 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, ... |
OMIM:618454 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Rickets, Osteomalacia |
OMIM:613388 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Hydrops... |
ORPHA:292 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Miscarriage, Short stature, Postnatal growth retardation, Bilateral renal hypoplasi... |
OMIM:619695 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi... |
OMIM:611717 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Choroidal neovascularization, Edema, Cardiomegaly, Polyhy... |
ORPHA:51608 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr... |
OMIM:615297 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma |
OMIM:251505 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... |
OMIM:313400 |
Cat Eye Syndrome |
|
Atrial septal defect, Renal agenesis, Ventricular septal defect, Short stature, Patent ductus art... |
OMIM:115470 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss... |
OMIM:166210 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal... |
ORPHA:3035 |
Incontinentia Pigmenti |
|
Finger syndactyly, Eosinophilia, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, A... |
ORPHA:464 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy... |
OMIM:617925 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Short stature, Camptodactyly of finger, Op... |
ORPHA:1466 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Alg9-Cdg |
|
Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... |
ORPHA:79328 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,... |
ORPHA:582 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Failure to thrive, Rickets |
OMIM:607765 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypopl... |
OMIM:253000 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypopla... |
OMIM:615524 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Anencephaly, Renal cyst, Horseshoe kidney, Cystic li... |
OMIM:612284 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoa... |
OMIM:617913 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Short stature, Lymphedema, Renal hypoplasia, Abnormal heart morphology, Pulmonic ste... |
ORPHA:314679 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, 3-Methylglutaconic... |
OMIM:618329 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Vitreous floaters, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia,... |
ORPHA:85447 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Joint stiffness, Micrognathia, Coxa valga, Flexion contractur... |
OMIM:248370 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Ventricular sept... |
ORPHA:26793 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re... |
OMIM:137920 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
Chikungunya |
|
Joint stiffness, Periostitis, Ankle joint effusion, Osteolysis, Synovitis, Enthesitis, Pedal edem... |
ORPHA:324625 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Short stature, Camptodactyly of finger, Cryptorch... |
ORPHA:3138 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia, Spinal dysraphism, Webbed neck, Nephroblastoma, Venous malformation |
OMIM:612918 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Optic atrop... |
ORPHA:494344 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Asplenia, Iris coloboma, Accessory spleen, Malformation of the hepatic d... |
OMIM:249000 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... |
OMIM:615777 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hepatitis, Hema... |
OMIM:615846 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ... |
OMIM:166220 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... |
ORPHA:536471 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Short stature, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy, In... |
OMIM:616171 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct... |
OMIM:620005 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... |
ORPHA:355 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ... |
OMIM:616507 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial b... |
ORPHA:96334 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t... |
OMIM:608612 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Lymphedema, Retinal hamartom... |
ORPHA:538 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of... |
ORPHA:239 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met... |
OMIM:613320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiom... |
OMIM:613155 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Joint hypermobility, Thoracolumbar kyphoscoliosis,... |
OMIM:618853 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... |
ORPHA:615 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Joint ... |
OMIM:253010 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterio... |
OMIM:249420 |
Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... |
ORPHA:166272 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Coccidioidomycosis |
|
Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Abnormal long bone m... |
ORPHA:228123 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
Cryptococcosis |
|
Lymphoid leukemia, Osteolysis, Osteomyelitis |
ORPHA:1546 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ... |
OMIM:258315 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density |
OMIM:620232 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Spl... |
ORPHA:2136 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, ... |
ORPHA:567 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Short stature, Cryptorchidis... |
OMIM:122470 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Occipital encephalocele, Encephal... |
OMIM:216360 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Morning glory anomaly, Meningocele, Optic atrophy, Rena... |
OMIM:614424 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Decreased sk... |
OMIM:244460 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Retinal hamartoma, Myelopathy, Epiretinal ... |
ORPHA:637 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... |
ORPHA:191 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies... |
OMIM:242900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestina... |
ORPHA:90362 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Sple... |
ORPHA:290 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Genu valgum, Joint hyperflexibility, Irregular vertebral endp... |
ORPHA:250984 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Mulibrey Nanism |
|
Absent frontal sinuses, Hypoplastic frontal sinuses, Thickened cortex of long bones |
OMIM:253250 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath... |
OMIM:617056 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Postaxial polydactyly, Micrognathia, Missing ribs, Ulnar bowing, Preax... |
OMIM:617866 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Short stature, Congenital diaphragmatic hernia, Pulmo... |
OMIM:300887 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist... |
ORPHA:73230 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia... |
OMIM:127000 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Coloboma, Growth delay, Camptodactyly of finger |
ORPHA:1617 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus... |
OMIM:243310 |
Congenital Myopathy 17 |
|
Polyhydramnios, Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Ure... |
OMIM:618975 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Postnatal growth retardation, Cryptorchidism, Heart murmur, Multiple bladder diverti... |
ORPHA:2728 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand... |
OMIM:620083 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Pol... |
OMIM:613610 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Glomerular subepithelial immune-co... |
OMIM:616307 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Webbed neck, Microphthalmia, Micropeni... |
OMIM:614083 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Absent testis |
OMIM:613094 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Palpebral edema, Short stature, Unilateral renal agenesis, Cardiac myxoma, C... |
OMIM:181270 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Polyhydramnios, Asplenia, Hydrops fetalis, Endocardial fibroelastosis, Atria... |
ORPHA:99776 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp... |
ORPHA:335 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Abn... |
OMIM:244300 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Growth delay, Death in childhood, Microphthalmia, Micropenis, Intrauteri... |
OMIM:610756 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flexion contracture... |
OMIM:215150 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Polyhydramnios, Fetal ascites... |
OMIM:261515 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Metaphyseal widening, Craniofac... |
OMIM:618476 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f... |
ORPHA:488434 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age |
OMIM:616026 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Clinodactyly of the 5th finger, Osteolysis, Micrognathia |
ORPHA:1052 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... |
OMIM:608328 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Skeletal muscle atrophy, Heart block, S... |
ORPHA:773 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Failure to thrive, Rickets |
ORPHA:2088 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism, Micropenis, Short stature |
OMIM:602342 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Renpenning Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Short stature, Phimosis, Situs inversus totalis, Renal hy... |
OMIM:309500 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol... |
ORPHA:666 |
Cystinosis |
|
Failure to thrive, Rickets |
ORPHA:213 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent... |
ORPHA:77298 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Elevated he... |
OMIM:619991 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Short stature, Edema, Stage 5 chronic kidney disease, C... |
OMIM:617729 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic sple... |
OMIM:602361 |
Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis, Abnormal vertebral epiphysis morphology, Platyspondyly |
ORPHA:90653 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... |
ORPHA:199241 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion con... |
OMIM:300232 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Scapular winging, Remnants of the hyaloid vascular system, Short stature... |
OMIM:619539 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Vesicoureteral reflux, A... |
ORPHA:508488 |
Shox-Related Short Stature |
|
Micrognathia, Short neck, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, L... |
ORPHA:314795 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atr... |
OMIM:214800 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short neck, Short toe, ... |
OMIM:616145 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Crypt... |
ORPHA:568 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Retinal coloboma, Micro... |
ORPHA:2328 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatom... |
OMIM:270400 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Reduced bone mineral density, Increased susceptibilit... |
ORPHA:561 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Degcags Syndrome |
|
Polyhydramnios, Bilateral renal hypoplasia, Atrial septal defect, Diaphragmatic eventration, Pate... |
OMIM:619488 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Joubert Syndrome 37 |
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Decreased testicular size, Hepatomegaly, Short stature, Cryptorchidism, Microphthalmia, Micropeni... |
OMIM:619185 |
Dysostosis, Stanescu Type |
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Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l... |
ORPHA:508533 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
Micro Syndrome |
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Abnormality of retinal pigmentation, Hypoplasia of penis, Short stature, Cryptorchidism, Optic at... |
ORPHA:2510 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Occipital encephalocele, Coloboma, Retinal dysplasia, Microphthalmia, Congenital muscular dystrophy |
ORPHA:324416 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne... |
OMIM:301078 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Retinal dystrophy, Optic nerve hypoplasia, Short stature, Flexion contracture, Optic atrophy, Ren... |
OMIM:619321 |
Histiocytoid Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re... |
ORPHA:137675 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
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Limitation of joint mobility, Hip dislocation, Sacrococcygeal pilonidal abnormality, Slender long... |
ORPHA:2840 |
Spondylo-Ocular Syndrome |
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Pes planus, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibi... |
ORPHA:85194 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Microphthalmia, Coloboma, Short stature, Iris coloboma |
OMIM:610023 |
Microphthalmia, Isolated, With Coloboma 7 |
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Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Chromosome 17Q12 Deletion Syndrome |
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Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Mirizzi Syndrome |
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Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls... |
ORPHA:521219 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Epiphyseal Dysplasia, Baumann Type |
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Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Pes planus, Short femur, Joint hypermobility, Talipes, Micrognathia, Short neck, Elliptocytosis, ... |
OMIM:300990 |
Aymé-Gripp Syndrome |
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Pericarditis, Proteinuria, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, ... |
ORPHA:1272 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Decreased bo... |
OMIM:618265 |
Townes-Brocks Syndrome |
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Atrial septal defect, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abno... |
ORPHA:857 |
Microphthalmia, Syndromic 13 |
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Microphthalmia, Short stature, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Coloboma, Muscular dystrophy, Death in childhood, Left ventricular hypertroph... |
OMIM:613153 |
Saul-Wilson Syndrome |
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Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Otopalatodigital Syndrome, Type I |
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Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Developmental And Epileptic Encephalopathy 1 |
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Growth delay, Microphthalmia, Micropenis |
OMIM:308350 |
Acute Interstitial Pneumonia |
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Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia |
ORPHA:309031 |
Brachyolmia Type 3 |
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Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Arthrogryposis Multiplex Congenita 6 |
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Death in infancy, Hypospadias, Polyhydramnios, Death in childhood, Neonatal death, Increased vari... |
OMIM:619334 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit... |
OMIM:164900 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
Microphthalmia With Limb Anomalies |
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Failure to thrive, Toe syndactyly, Sandal gap, Sacral dimple, Capitate-hamate fusion, 2-3 toe cut... |
OMIM:206920 |
Microphthalmia, Syndromic 5 |
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Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Short statu... |
OMIM:610125 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Genu recurvatum, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Spina b... |
ORPHA:1185 |
Penile Agenesis |
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Urethral atresia, male, Hydroureter, Ventricular septal defect, Cryptorchidism, Fetal pyelectasis... |
ORPHA:49 |
Poland Syndrome |
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Duplicated collecting system, Atrial septal defect, Encephalocele, Hypospadias, Dextrocardia, Con... |
ORPHA:2911 |
Premature Ovarian Failure 12 |
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Microphthalmia, Macular dystrophy |
OMIM:616947 |
Lymphoproliferative Syndrome 1 |
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Splenomegaly, Hepatomegaly, Pericardial effusion, Pleural effusion |
OMIM:613011 |
Poems Syndrome |
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Papilledema, Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Asci... |
ORPHA:2905 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Hypospadias, Short stature, Edema, Cryptorchidism, Congestive heart failure, Umbilical hernia, Mi... |
ORPHA:2505 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Van Maldergem Syndrome 1 |
|
Growth delay, Hypospadias, Renal hypoplasia, Camptodactyly |
OMIM:601390 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Coloboma, Pectoral muscle hypoplasia/aplasia, Joint contracture of ... |
OMIM:136760 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Renal hyp... |
OMIM:105650 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Thrombocytosis, Fa... |
OMIM:212750 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Osteopenia, Micrognathia, Short neck, Knee dislocation, Shoulder dislocation, Dislocated radial h... |
OMIM:245600 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Small for gestational age, Rickets, Red... |
OMIM:613658 |
Duplication Of Urethra |
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Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph... |
OMIM:612813 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Growth delay, Hypoplastic nipples, Micropenis |
OMIM:615546 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
Platyspondylic Dysplasia, Torrance Type |
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Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler... |
OMIM:607944 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Atrial septal defect, Vesicouretera... |
OMIM:194050 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, ... |
ORPHA:264200 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of... |
ORPHA:2092 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... |
OMIM:608978 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosyn... |
OMIM:616294 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly... |
OMIM:619269 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... |
OMIM:618805 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Pyelonep... |
ORPHA:730 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... |
ORPHA:899 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl... |
OMIM:143095 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of ... |
ORPHA:370959 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis, Abnormal cardiac septum ... |
ORPHA:250989 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Elevated circulating aspartat... |
OMIM:620300 |
Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Short stature, Cryptorchidism, Flexion contracture, Optic atrophy, Severe ... |
OMIM:615663 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Cryptorchidism, Patent ductus art... |
OMIM:139210 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Postnatal growth retardation,... |
ORPHA:959 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aortic aneurysm |
ORPHA:1777 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlord... |
ORPHA:2839 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Osteolysis, Neutropenia |
ORPHA:73263 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on trunk, Mitral v... |
ORPHA:536532 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ... |
ORPHA:1692 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Polydactyly, Failure to ... |
ORPHA:17 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A... |
OMIM:613001 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal femur m... |
ORPHA:562 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h... |
ORPHA:97685 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... |
ORPHA:958 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Abnormality of the... |
ORPHA:3380 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Okamoto Syndrome |
|
Ventricular septal defect, Urinary incontinence, Abnormally large globe, Splenomegaly, Abnormal l... |
ORPHA:2729 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Coloboma, Left superior vena cava draining to coronary sinus,... |
OMIM:611961 |
Aspartylglucosaminuria |
|
Pes planus, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal corti... |
ORPHA:93 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Urethral atresia, Transposition of the great arteries, Neonatal dea... |
OMIM:314390 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Optic atroph... |
ORPHA:3301 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrops fetalis, Coar... |
ORPHA:268249 |
Peters-Plus Syndrome |
|
Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Atrial septal defect, Iris coloboma, ... |
OMIM:261540 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal ep... |
ORPHA:1824 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Optic atrophy, Hypo... |
OMIM:251300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia, Muscular dystrophy |
OMIM:614830 |
Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Limited elbow movement, Sagittal craniosynostosis, As... |
ORPHA:221120 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h... |
OMIM:618958 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular aor... |
ORPHA:3191 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis, Osteoarthri... |
OMIM:108300 |
Kinsship Syndrome |
|
Death in infancy, Short stature, Renal hypoplasia, Horseshoe kidney |
OMIM:619297 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Optic neuropathy, Pericardial effusion, Splenomegaly, Enlarged lacrimal glands, Hyp... |
OMIM:181000 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Microphthalmia, Intrauterine growth... |
ORPHA:48431 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma, Short stature, Webbed neck |
OMIM:614583 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Rhabdomyolysis, Dehydration, Decreased liver function, Neonatal death, Myoglobinuria |
OMIM:602199 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Nephroblastoma, Ventricular septal defect |
OMIM:602501 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur... |
OMIM:614105 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgita... |
OMIM:619879 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Cryptorchidism, Optic atrophy, Short stature |
OMIM:600118 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Short stature, Ectopic kidney, Cryptorchidism, Abno... |
OMIM:227650 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Short stature, Abnormal vitreous humor morphology, Exudative retinopathy, Exu... |
ORPHA:2788 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Atrioventricular canal defect, Spina bifida occulta, ... |
ORPHA:500 |
Hypermobile Ehlers-Danlos Syndrome |
|
Pes planus, Abnormal foot morphology, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Flexion contracture, Elbow flexion contracture, Dehydration, Knee flexion contrac... |
OMIM:214150 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Crypto... |
ORPHA:2166 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Short stature, Ectopic kidney, Cryptorchidism, Hors... |
OMIM:600901 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Congenital diaphragmatic hernia, Crypt... |
ORPHA:2059 |
Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va... |
ORPHA:800 |
Hall-Riggs Syndrome |
|
Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor... |
ORPHA:2107 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Polyhydramnios, Tubular luminal dilatation, Renal... |
OMIM:219730 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul... |
OMIM:610442 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Epistaxis, Edema, Pericardial... |
ORPHA:167 |
Momo Syndrome |
|
Femoral bowing, Large hands, Short sternum, Abnormal bone ossification, Congenital pseudoarthrosi... |
ORPHA:2563 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Intermediate Uveitis |
|
Psoriasiform dermatitis, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Vas... |
ORPHA:279914 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Weight loss, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Osteopenia, Short femur, Hypertriglyceridemia, Camptodactyly of finger, ... |
ORPHA:3455 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:304150 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Short stature, Polyhydramnios, Optic disc coloboma, Pseudohyp... |
OMIM:617157 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Postnatal growth retardation, Contracture of t... |
ORPHA:83617 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Short stature, Congenital diaphragmatic... |
OMIM:309801 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningoc... |
OMIM:219000 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Joint stiffness, Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of... |
ORPHA:354 |
Martsolf Syndrome 1 |
|
Joint laxity, Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathi... |
OMIM:212720 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ventricular septal defect, Short stature, Ectopic k... |
OMIM:227645 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Small for gestational age, Hypertriglyceridemia, Long foot,... |
OMIM:264090 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Postnatal growth retardation, Flexion contracture, Optic atrophy, Micropht... |
OMIM:614222 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Pulmonary arterial hypertension, Atrial septal defect, Mi... |
OMIM:616449 |
Moebius Syndrome |
|
Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly, Microphthalmia, Micro... |
OMIM:157900 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioret... |
OMIM:608091 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... |
ORPHA:93274 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... |
ORPHA:18 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c... |
OMIM:600920 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia, Pelvic kidney |
OMIM:617244 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Abnormal retinal morphology, Camptodactyly of finger, Bilateral microphthalmos, El... |
OMIM:610758 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Fanconi Anemia |
|
Abnormality of the liver, Atrial septal defect, Hypospadias, Short stature, Spina bifida, Cryptor... |
ORPHA:84 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... |
ORPHA:564 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pancytopenia, Pes planus, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Pulmonary arterial hypertension, Subvalv... |
ORPHA:65286 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Preaxial hand poly... |
ORPHA:261318 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Truncus arteriosus, Con... |
ORPHA:2538 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Optic atrophy |
ORPHA:1528 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypopl... |
OMIM:206900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Talipes, Severe generalized osteoporosis, Micrognathia, Kyphoscoliosis, Hypoplas... |
OMIM:210730 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Ventricular arrhythmia, Elevated circulating growth hormone concentrati... |
ORPHA:91347 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral va... |
OMIM:107480 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Hypospadias, Short stature, Cryptorchidism, Penoscrotal transposition, Patent duct... |
OMIM:619148 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Splenomegaly, H... |
OMIM:618641 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Optic atrophy, Skeletal muscle atrophy |
OMIM:617255 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Bicuspid aortic valve, Anophthalmia, Renal hypoplasia/aplasia, Cryptorc... |
OMIM:309800 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ... |
ORPHA:2052 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... |
OMIM:154780 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Lymphedema, Chorioretinal lacunae, Optic atrophy, Mi... |
OMIM:152950 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Nephroblastoma, Congenital diap... |
OMIM:194080 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Ventricular septal defect, Pulmonary arterial hypertension, Male urethral meatus ste... |
ORPHA:464738 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the... |
ORPHA:2255 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Retinitis, Cryptorchidism, Epispadias, Optic ... |
OMIM:615948 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ventricular septal defect, Short stature, Ectopic kidney, Postnatal gro... |
OMIM:135900 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne... |
OMIM:265380 |
Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulating creatine kinase... |
OMIM:309000 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
Temtamy Syndrome |
|
Aortic regurgitation, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Aortic aneurysm |
OMIM:218340 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Short stature, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Iri... |
OMIM:618874 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Dextrocardia, Patent ductus arteriosus, Abnormal vit... |
ORPHA:1571 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Renal hypoplasia/aplasia |
ORPHA:1438 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Short stature, Ectopic kidney, Cryptorchidism, Pate... |
OMIM:227646 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Short stature, Horseshoe kidney, Camptodactyly, Mic... |
OMIM:272950 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi... |
OMIM:241410 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Pa... |
ORPHA:2162 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Ret... |
ORPHA:2556 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Amyloid deposition in the vitreous humor, Stroke-like episode... |
OMIM:105210 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Splenomegaly,... |
OMIM:253220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Skeletal muscle atrophy, Dilated cardiomyopathy, Optic atrophy... |
OMIM:253800 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Flexion contracture, Optic atrophy, Macul... |
OMIM:147791 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Patent ductus arteriosus, Flexion contracture of the 4th toe, Mitral valve pr... |
ORPHA:2712 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Postnatal growth retardation, Cryptorchidism, Chorioretinal coloboma, Microphth... |
OMIM:619135 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Short palm, Rocker bottom foo... |
ORPHA:79474 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Lumbar hyperlordosi... |
ORPHA:1830 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Cryptorchidism, Flexion contracture, Optic atrophy, Microphthalmia,... |
OMIM:614225 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia, Hydronephrosis |
OMIM:302960 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Rickets |
ORPHA:411629 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:616975 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Abnormal heart morphology, Retinal coloboma, Microphthalmia, Renal dysplasia |
OMIM:618571 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Flexion contracture, Severe postnatal growth retardation, Microphthalmia, Hydronep... |
ORPHA:35173 |
Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Ventricular septal ... |
OMIM:229850 |
Monosomy 18P |
|
Short stature, Lymphedema, Hypertension, Webbed neck, Microphthalmia |
ORPHA:1598 |
Achondrogenesis Type 2 |
|
Retinal detachment, Short stature, Abnormal vitreous humor morphology, Edema |
ORPHA:93296 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Chorioretinal coloboma, Vesicoureteral reflux, Micropenis, Iris col... |
ORPHA:138 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cryptorchidism, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Wrinkly Skin Syndrome |
|
Osteopenia, Pes planus, Congenital hip dislocation, Kyphoscoliosis, Generalized joint laxity, Cox... |
ORPHA:2834 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... |
OMIM:600001 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation |
OMIM:602200 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Growth delay, Interrupted aor... |
OMIM:616920 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Flexion contracture, Coloboma, Muscular dystrophy, Microphthalmia, Retina... |
OMIM:615249 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Micr... |
OMIM:618804 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Pmm2-Cdg |
|
Multiple joint contractures, Lymphedema, Intracranial hemorrhage, Hepatic fibrosis, Aplasia of th... |
ORPHA:79318 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Limb hypertonia, Oligohydramnios |
OMIM:614219 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Thor... |
OMIM:300373 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Birth ... |
ORPHA:3404 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Xerostomia, Renal hypoplasia, Vesicoureteral reflux, Co... |
ORPHA:2363 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... |
ORPHA:171 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... |
OMIM:619698 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Coloboma, Microphthalmia, Optic atrophy |
OMIM:612379 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Cryptorchidism, Renal hypoplasia, Coloboma, Microphthalmia, Ante... |
OMIM:607932 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... |
ORPHA:93271 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Cryptorchidism, Bilateral microphthalmos, Abnormal hear... |
ORPHA:369891 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Cryptorchidism, Oligohydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:228390 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral ren... |
ORPHA:2237 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all ... |
OMIM:218330 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Growth delay, Umbilical hernia, ... |
OMIM:613884 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowing of the legs, Hypoplastic... |
ORPHA:1855 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Wide anterior fontanel, Kyphosis, Tibial bowing,... |
OMIM:616482 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr... |
ORPHA:740 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of the ... |
ORPHA:436252 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Short stature, Col... |
OMIM:147250 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Complete atrioventricul... |
OMIM:236680 |
Steinfeld Syndrome |
|
Absent gallbladder, Abnormal heart morphology, Retinal coloboma, Microphthalmia, Unilateral renal... |
OMIM:184705 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Hypospadias, Coloboma, Microphthalmia |
OMIM:615877 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Growth delay, Pigmentary retinopathy, Camptodactyly, Microphthalmia, Micropenis |
OMIM:614230 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... |
OMIM:212550 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten... |
ORPHA:141099 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Polyhydramnios, Renal hypoplasia/aplasia, Spina bifida, Cryptorchid... |
ORPHA:3412 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Short st... |
ORPHA:193 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypospadias, Short stature, Cryptorchidism, Optic atrophy, Renal hypoplasia, Macroglossia, Lower ... |
OMIM:309580 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short stature, Growth delay, Unilateral renal hypoplasia, Macroorchidism, Limb hypertonia |
OMIM:619950 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Severe short stature, Proteinuria, Postnatal growth retardatio... |
OMIM:133540 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Neonat... |
OMIM:612289 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, ... |
ORPHA:3186 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Retinal atrophy, Optic nerve hypoplasia, Cryptorchid... |
OMIM:236670 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris col... |
ORPHA:139471 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Flexion contracture, Microphthalmia, Mild short stature |
OMIM:614833 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Chorioretinal dysplasia, Dehydration, Oligosacchariduria, Nephrocalcinosis, ... |
ORPHA:534 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ... |
OMIM:277900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... |
ORPHA:42775 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Fetal Alcohol Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, Intrauterin... |
ORPHA:1915 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Severe short stature, Hypospadias, Optic nerve hypoplasia, Unilateral renal ag... |
ORPHA:468631 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Severe short stature, A... |
ORPHA:90349 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Short neck, Tall ... |
OMIM:102500 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Platyspondyly, Abnormal epiphysis morp... |
ORPHA:2588 |
Aspergillosis |
|
Abnormality of the kidney, Vitritis, Hepatitis, Intracranial hemorrhage, Stroke, Pleural effusion |
ORPHA:1163 |
Roberts Syndrome |
|
Progressive flexion contractures, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, L... |
ORPHA:3103 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Cryptorchidism, Anencephaly, Microphthalmia |
ORPHA:2189 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Weight loss, T ... |
OMIM:619381 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Cr... |
ORPHA:1101 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Abnormal vitreous humor morphology |
OMIM:604841 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Coloboma |
OMIM:167730 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Ventricular septal defect, Renal agenesis, Polyhydramnios, Spina bifida, Cryptor... |
OMIM:256520 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Knee flexion contracture, Coloboma, Atrial septal defect, Wrist flexion contractu... |
OMIM:268300 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Optic disc coloboma, Microphthalmia, Spina bifida occulta, Iris coloboma |
OMIM:169550 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Dubowitz Syndrome |
|
Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Hypoplasia of the iris,... |
OMIM:223370 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, ... |
OMIM:612530 |
Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, Kyphosis, Osteoarthritis, Hip disloc... |
ORPHA:828 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Rickets, Weight loss, Genu valg... |
OMIM:219800 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature, Iris coloboma |
ORPHA:1791 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism, Hypoplasia of penis, Camptodactyly of finger |
ORPHA:284160 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Ocular albinism, Intrauterine growth retardation |
ORPHA:1352 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Talipes equinovarus |
ORPHA:286 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Microphthalmia, Iris coloboma |
ORPHA:2250 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy, Short stature |
OMIM:614284 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Retinal detachment, Optic disc pallor, Occipital encephalocele, Ren... |
OMIM:267750 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Short stature, Camptodactyly of finger, Cryptorchidism, Optic disc col... |
ORPHA:251014 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia, Ventricular septal defect, Optic atrophy |
OMIM:234050 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma, Retinal coloboma, Iris coloboma |
ORPHA:2791 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Absent nipple, Aplasia of the thymus, Short stature, Polyhydramnios, Facial palsy... |
OMIM:620186 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Coloboma, Short stature |
OMIM:617306 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Coloboma, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Retinal detachment, Iris coloboma, Macular coloboma |
OMIM:615145 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Camptodactyly of toe, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Nance-Horan Syndrome |
|
Microphthalmia, Retinal detachment |
ORPHA:627 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita... |
OMIM:263650 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... |
OMIM:612109 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atrioventricular canal... |
ORPHA:672 |
Mowat-Wilson Syndrome |
|
Hypospadias, Abnormality of the kidney, Supernumerary nipple, Ventricular septal defect, Pulmonar... |
OMIM:235730 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Short stature, Diastasis recti, Supernumerary nipple, Congeni... |
OMIM:305600 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Treacher-Collins Syndrome |
|
Encephalocele, Thyroid hypoplasia, Hypoplasia of penis, Branchial fistula, Cryptorchidism, Patent... |
ORPHA:861 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia, Facial hypotonia |
OMIM:614526 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Basal encephalocele, Cranium bifidum occultum, Microphtha... |
ORPHA:391474 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Bilateral cryptorchidism, Oligohydramnios, Microphthalmia, Intrauterine growth ret... |
OMIM:613451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Increased variability in muscle fiber diameter, Buphthalmos, Ske... |
OMIM:613150 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Proportionate short stature, Cryptorchidism, Optic disc coloboma, Telangiectasia, H... |
OMIM:234100 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Joint contracture of the 5th finger, Atrial septal defect, Microphthalmia, Ar... |
OMIM:164200 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Holoprosencephaly 1 |
|
Short stature, Micropenis, Microphthalmia, Cyclopia, Single ventricle |
OMIM:236100 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Cryptorchidism, Micropenis |
OMIM:300895 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Thin sk... |
OMIM:601812 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Cryptorchidism, Coloboma, Microphthalmia, Micropenis |
OMIM:603457 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Urethral atresia, Microphthalmia, Adre... |
OMIM:273395 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Monosomy 9P |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Webbed neck, Microphthalmia, Ureter... |
ORPHA:261112 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Rhabdomyosarcoma, Cardiac fibroma, Umbilical hernia, Microphthalmia, Nephroblast... |
ORPHA:77301 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... |
OMIM:610829 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Short stature, Flexion contracture, Telangiectasia, Microphthalmia |
OMIM:601675 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Retinal dystrophy, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystroph... |
OMIM:616538 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ... |
OMIM:100300 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Death in childhood, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias... |
OMIM:243800 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Short stature, Supernumerary nipple, Retinal vascula... |
OMIM:308300 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Joint contracture of the 5th finger, Supernumerary nipple |
OMIM:620098 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Short stature, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiom... |
ORPHA:480880 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Facial palsy, Postnatal growth r... |
OMIM:113620 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphth... |
OMIM:109400 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short stature, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia |
OMIM:616734 |
Norrie Disease |
|
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... |
OMIM:310600 |
Opsismodysplasia |
|
Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Scoliosis, Severe p... |
OMIM:258480 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos,... |
ORPHA:33364 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral bodies T12-L3 |
ORPHA:79255 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te... |
OMIM:613406 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261552 |
Aicardi Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Torticollis, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation ... |
OMIM:619480 |
Marshall Syndrome |
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Retinal detachment, Vitreoretinopathy, Short stature, Abnormal vitreous humor morphology |
ORPHA:560 |
Deafness, X-Linked 7 |
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Unilateral microphthalmos |
OMIM:301018 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ventricular ... |
OMIM:164210 |
Acute Zonal Occult Outer Retinopathy |
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Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Phacoanaphylactic Uveitis |
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Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macular edema, Corneal stromal e... |
ORPHA:209959 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia, Camptodactyly of finger, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Enhanced S-Cone Syndrome |
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Edema, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia, Pigmentary retinopathy, Optic atrophy, Short stature |
OMIM:610651 |
Monosomy 13Q14 |
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Short stature, Webbed neck, Microphthalmia, Iris coloboma, Retinoblastoma, Intrauterine growth re... |
ORPHA:1587 |
Mend Syndrome |
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Short stature, Cryptorchidism, Abnormal heart morphology, Microphthalmia, Aortic valve stenosis, ... |
ORPHA:401973 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Microphthalmia, Short stature |
OMIM:257850 |
Ectodermal Dysplasia-Blindness Syndrome |
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Microphthalmia, Short stature |
ORPHA:1806 |
Aicardi Syndrome |
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Retinal detachment, Spina bifida, Postnatal growth retardation, Chorioretinal lacunae, Optic disc... |
OMIM:304050 |
Metachromatic Leukodystrophy |
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Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Curry-Jones Syndrome |
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Occipital meningocele, Microphthalmia, Lipomyelomeningocele, Iris coloboma |
OMIM:601707 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
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Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Linear Nevus Sebaceus Syndrome |
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Growth delay, Microphthalmia, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Aspartylglucosaminuria |
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Joint laxity, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Pathologic fracture, Beaking of ... |
OMIM:208400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomala... |
ORPHA:444077 |
Cornea Plana 2, Autosomal Recessive |
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Microphthalmia |
OMIM:217300 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Oligohydramnios, Ventricular septal hypertrophy, Microphthalmia, Intra... |
OMIM:608670 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, Homocystinuria |
OMIM:601552 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retinal dysplasi... |
OMIM:253280 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Hallermann-Streiff Syndrome |
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Proportionate short stature, Cryptorchidism, Congestive heart failure, Abdominal situs inversus, ... |
ORPHA:2108 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Microphthalmia, Optic atrophy |
OMIM:618727 |
Rothmund-Thomson Syndrome, Type 2 |
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Short stature, Cryptorchidism, Telangiectasia, Microphthalmia, Annular pancreas |
OMIM:268400 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Retinal calci... |
ORPHA:93325 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Acrofrontofacionasal Dysostosis 1 |
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Microphthalmia, Optic atrophy, Short stature |
OMIM:201180 |
Holoprosencephaly 7 |
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Bilateral microphthalmos, Microphthalmia, Occipital meningocele, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Nance-Horan Syndrome |
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Microphthalmia |
OMIM:302350 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Cranium bifidum occultum, Microphtha... |
ORPHA:306542 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Sympathetic Ophthalmia |
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Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Birdshot Chorioretinopathy |
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Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Frontofacionasal Dysplasia |
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Cranium bifidum occultum, Microphthalmia, Iris coloboma |
OMIM:229400 |
Knobloch Syndrome 2 |
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Encephalocele, Retinal detachment, Vitreous floaters, Patent ductus arteriosus, Vitreoretinopathy |
OMIM:618458 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v... |
ORPHA:2273 |
Antiphospholipid Syndrome, Familial |
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Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion |
OMIM:107320 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Treacher Collins Syndrome 1 |
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Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph... |
OMIM:154500 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Retinoblastoma |
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Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma |
OMIM:180200 |