SE-ATLAS

22q11.2 deletion syndrome Acromelic dysplasia Acromesomelic dysplasia Adamantinoma Campomelia, Cumming type Campomelic dysplasia Campomelic dysplasia and related disorders Chondrodysplasia punctata Chondrodysplasie létale Chondromyxoid fibroma Ciliopathies with major skeletal involvement Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Congenital vascular bone syndrome Craniosynostose Diaphragmatic or abdominal wall malformation Digestive tract malformation Duplication rectale Dysostose craniofaciale Dysostose rotulienne Dysostose vertébrale ou costale Dysostosis Dysostosis with limb anomaly as a major feature Dysplasie cleido-crânienne et défaut d'ossification du crâne isolé Dysplasie kyphomélique Dysplasie osseuse primaire avec développement anarchique d'un élément du squelette Défaut de fermeture du tube neural Epiphysiolysis of the hip FGFR2-related bent bone dysplasia Familial ossifying fibroma Gastroduodenal malformation Idiopathic phalangeal acro-osteolysis Intestinal malformation Lysosomal storage disease with skeletal involvement Maffucci syndrome Maladie d'Ollier Maladie de Blount Maladie de Gorham-Stout Maladie des exostoses multiples Malformation anorectale Malformation de l'oesophage Malformation non syndromique du diaphragme ou du thorax Malformation of the neurenteric canal, spinal cord and column Mesomelic and rhizo-mesomelic dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple metaphyseal dysplasia Mélanocytose neurocutanée Naevus pigmentaire congénital géant Nanisme parastremmatique Neural tube defect Non-syndromic anorectal malformation Non-syndromic diaphragmatic or abdominal wall malformation Nécrose avasculaire Oncogenic osteomalacia Osteochondrosis Osteogenesis imperfecta Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Ostéoblastome Ostéochondrite disséquante Ostéochondrite disséquante familiale Ostéogenèse imparfaite type 1 Ostéogenèse imparfaite type 2 Ostéogenèse imparfaite type 3 Ostéonécrose Otopalatodigital syndrome spectrum disorder Polykystose rénale autosomique dominante Polykystose rénale autosomique récessive Primary bone dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization 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 Pseudoarthrose congénitale de la clavicule Rare bone disease Sarcome osseux Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Slender bone dysplasia Solitary bone cyst Spondylodysplastic dysplasia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondylometaphyseal dysplasia Syndrome OSLAM Syndrome angio-ostéo-hypertrophique Syndrome angio-ostéo-hypotrophique Syndrome de Klippel-Trénaunay inverse Syndrome de Sagliker Syndrome de Stüve-Wiedemann Syndrome de Weismann-Netter-Stuhl Syndrome de petite taille-âge osseux avancé-arthrose précoce Syndrome de sténose médullaire diaphysaire-tumeur osseuse Syndrome hypertrophique de Kosaki Syndromic anorectal malformation Syndromic diaphragmatic or abdominal wall malformation Tumeur osseuse rare