SE-ATLAS

22q11.2 deletion syndrome Acromelic dysplasia Acromesomelic dysplasia Adamantinoma Angioosteohypertrophic syndrome Angioosteohypotrophic syndrome Anorectal malformation Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease Avascular necrosis Blount disease Bone sarcoma Campomelia, Cumming type Campomelic dysplasia Campomelic dysplasia and related disorders Chondrodysplasia punctata Chondromyxoid fibroma Ciliopathies with major skeletal involvement Cleidocranial dysplasia and isolated cranial ossification defect Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Congenital pseudoarthrosis of the clavicle Congenital vascular bone syndrome Craniosynostosis Diaphragmatic or abdominal wall malformation Diaphyseal medullary stenosis-bone malignancy syndrome Digestive tract malformation Dysostosis Dysostosis with limb anomaly as a major feature Dysostosis with predominant craniofacial involvement Dysostosis with predominant vertebral and costal involvement Epiphysiolysis of the hip Esophageal malformation FGFR2-related bent bone dysplasia Familial ossifying fibroma Familial osteochondritis dissecans Gastroduodenal malformation Gorham-Stout disease Idiopathic phalangeal acro-osteolysis Intestinal malformation Inverse Klippel-Trénaunay syndrome Kosaki overgrowth syndrome Kyphomelic dysplasia Large congenital melanocytic nevus Lethal chondrodysplasia Lysosomal storage disease with skeletal involvement Maffucci syndrome Malformation of the neurenteric canal, spinal cord and column Mesomelic and rhizo-mesomelic dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple metaphyseal dysplasia Multiple osteochondromas Neural tube closure defect Neural tube defect Neurocutaneous melanocytosis Non-syndromic anorectal malformation Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic diaphragmatic or thoracic malformation OSLAM syndrome Ollier disease Oncogenic osteomalacia Osteoblastoma Osteochondritis dissecans Osteochondrosis Osteogenesis imperfecta Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteonecrosis Otopalatodigital syndrome spectrum disorder Parastremmatic dwarfism Patellar dysostosis Primary bone dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal components Primary bone dysplasia with increased bone density Primary bone dysplasia with micromelia Primary bone dysplasia with multiple joint dislocations Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary intraosseous venous malformation Primary osteolysis Rare bone disease Rare bone tumor Rectal duplication Sagliker syndrome Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Short stature-advanced bone age-early-onset osteoarthritis syndrome Slender bone dysplasia Solitary bone cyst Spondylodysplastic dysplasia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondylometaphyseal dysplasia Stüve-Wiedemann syndrome Syndromic anorectal malformation Syndromic diaphragmatic or abdominal wall malformation Weismann-Netter syndrome