SE-ATLAS

Slender bone dysplasia Primary bone dysplasia with increased bone density Primary bone dysplasia with decreased bone density Primary osteolysis Primary bone dysplasia with disorganized development of skeletal components Ollier disease Maffucci syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Hypocalcemic rickets Campomelic dysplasia Neonatal severe primary hyperparathyroidism Hypophosphatemic rickets Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 1 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple metaphyseal dysplasia Primary bone dysplasia with micromelia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Acromelic dysplasia Mesomelic and rhizo-mesomelic dysplasia Primary bone dysplasia with multiple joint dislocations Familial hypocalciuric hypercalcemia type 3 Achondroplasia Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Cole-Carpenter syndrome Nestor-Guillermo progeria syndrome Chondrodysplasia with joint dislocations, gPAPP type Metaphyseal anadysplasia Roifman syndrome Rhizomelic syndrome, Urbach type Richieri Costa-da Silva syndrome Geroderma osteodysplastica Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Autosomal dominant Robinow syndrome Acromesomelic dysplasia, Maroteaux type Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Grant syndrome Acromesomelic dysplasia, Grebe type Albers-Schönberg osteopetrosis Dyssegmental dysplasia, Rolland-Desbuquois type Spondyloepimetaphyseal dysplasia, matrilin-3 type Hallermann-Streiff syndrome Hip dysplasia, Beukes type Schneckenbecken dysplasia Diaphanospondylodysostosis Sclerosteosis Robinow syndrome Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Saldino-Noonan type Thanatophoric dysplasia type 2 Monostotic fibrous dysplasia Polyostotic fibrous dysplasia Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Spondyloepiphyseal dysplasia, Kimberley type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepiphyseal dysplasia tarda Autosomal recessive Stickler syndrome Spondylocamptodactyly syndrome Multiple epiphyseal dysplasia due to collagen 9 anomaly Hypochondrogenesis Auriculoosteodysplasia Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo type Brachyolmia, Maroteaux type Autosomal dominant brachyolmia Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 5 Infantile systemic hyalinosis Multiple epiphyseal dysplasia, Lowry type Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Sedaghatian type Stüve-Wiedemann syndrome Progressive pseudorheumatoid arthropathy of childhood Multiple epiphyseal dysplasia, Al-Gazali type CHILD syndrome Autosomal dominant Kenny-Caffey syndrome Autosomal recessive Kenny-Caffey syndrome Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Autosomal recessive omodysplasia Brachydactyly-short stature-retinitis pigmentosa syndrome Autosomal dominant omodysplasia Multiple epiphyseal dysplasia, with miniepiphyses Metaphyseal chondrodysplasia, Kaitila type Trichorhinophalangeal syndrome X-linked calvarial hyperostosis Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Microcephalic primordial dwarfism Spondyloepimetaphyseal dysplasia congenita, Strudwick type Reunion Island Larsen-like syndrome Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Shohat type SPONASTRIME dysplasia Spondyloepimetaphyseal dysplasia with joint laxity Platyspondylic dysplasia, Torrance type Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Rhizomelic chondrodysplasia punctata Craniofacial conodysplasia Alazami syndrome IMAGe syndrome Astley-Kendall dysplasia Cherubism Diaphyseal medullary stenosis-bone malignancy syndrome Craniometadiaphyseal dysplasia, wormian bone type Singleton-Merten dysplasia Idiopathic juvenile osteoporosis Familial expansile osteolysis Spondylo-ocular syndrome Nodulosis-arthropathy-osteolysis syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome Autosomal dominant otospondylomegaepiphyseal dysplasia Osteopetrosis-hypogammaglobulinemia syndrome Isolated osteopoikilosis Boomerang dysplasia Dyggve-Melchior-Clausen disease Ciliopathies with major skeletal involvement Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Multiple epiphyseal dysplasia Acromesomelic dysplasia Spondylometaphyseal dysplasia Chondrodysplasia punctata Primary bone dysplasia with defective bone mineralization SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Weismann-Netter syndrome Lethal chondrodysplasia Buschke-Ollendorff syndrome Kenny-Caffey syndrome Ellis Van Creveld syndrome Desmosterolosis Lethal Kniest-like dysplasia Camurati-Engelmann disease Madelung deformity, unilateral Spondyloepimetaphyseal dysplasia, Handigodu type Cheirospondyloenchondromatosis Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Larsen-like osseous dysplasia-short stature syndrome Disorders of vitamin D metabolism Hyperostosis corticalis generalisata X-linked dominant chondrodysplasia punctata Phalangeal microgeodic syndrome Hypocalcemic vitamin D-dependent rickets Torg-Winchester syndrome Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Lethal chondrodysplasia, Seller type Lethal recessive chondrodysplasia Desbuquois syndrome Familial hypocalciuric hypercalcemia Mandibuloacral dysplasia X-linked skeletal dysplasia-intellectual disability syndrome Cleidorhizomelic syndrome Melnick-Needles syndrome Melorheostosis Mesomelia-synostoses syndrome Upper limb mesomelic dysplasia Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome Spondyloepiphyseal dysplasia with metatarsal shortening Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Thin ribs-tubular bones-dysmorphism syndrome Coxoauricular syndrome Craniodiaphyseal dysplasia Larsen-like syndrome, B3GAT3 type Chondrodysplasia punctata, Sheffield type Chondrodysplasia punctata, tibial-metacarpal type Larsen syndrome FGFR2-related bent bone dysplasia Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia, Geneviève type Microcephalic primordial dwarfism due to ZNF335 deficiency Dacryocystitis-osteopoikilosis syndrome Stickler syndrome type 1 Stickler syndrome type 2 McCune-Albright syndrome 3M syndrome Geleophysic dysplasia Mesomelic dysplasia, Nievergelt type Metatropic dysplasia Fibular aplasia-complex brachydactyly syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Osteoglosphonic dysplasia Thanatophoric dysplasia Spondylometaphyseal dysplasia, Golden type Axial spondylometaphyseal dysplasia Spondylometaphyseal dysplasia, A4 type Enlarged parietal foramina Talo-patello-scaphoid osteolysis Wolcott-Rallison syndrome Osteogenesis imperfecta Otopalatodigital syndrome Syndrome d'insuffisance pancréatique-anémie-hyperostose Omodysplasie Cutis laxa autosomique récessive type 2A Ostéocraniosténose Ostéochondromatose carpo-tarsienne Maladie de Nasu-Hakola Syndrome d'ostéogenèse imparfaite-microcéphalie-cataracte Ostéolyse carpo-tarsienne multicentrique avec ou sans néphropathie Syndrome d'incurvation latérale sévère du tibia-petite taille-omoplate ailée modérée-dysmorphie faciale modérée Ostéomésopycnose Syndrome d'ostéopathie striée-sclérose crânienne Dysplasie chondroectodermique avec cécité nocturne Ostéopétrose autosomique dominante type 1 Ostéopétrose avec acidose tubulaire rénale Syndrome de Silver-Russell dû à une microduplication 7p11.2p13 Progéria Syndrome de dyschondrostéose-néphropathie Hyperostose endostéale type Worth Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 11 Syndrome de Silver-Russell dû à une microduplication 11p15 Pseudoachondroplasie Maladie de Paget juvénile Ostéogenèse imparfaite type 4 Ostéogenèse imparfaite type 5 OBSOLETE : Dysostose périphérique Dystrophie osseuse sclérosante mixte avec manifestations extra-squelettiques Dysplasie hémato-diaphysaire de Ghosal Dysplasie rhizomélique de Patterson-Lowry Syndrome de Lowry-Wood Dysplasie fronto-métaphysaire Dysplasie osseuse ostéosclérotique létale Syndrome de Shwachman-Diamond Syndrome de Silver-Russell Petite taille type Bruxelles Syndrome de Stickler Syndrome de dysplasie spondylo-périphérique-cubitus court Syndrome de dysplasie spondylo-épiphysaire-brachydactylie-trouble du langage Dysplasie thanatophore type 1 Dysplasie dyssegmentaire type Silverman-Handmaker Rachitisme hypophosphatémique autosomique dominant Syndrome de brachyolmie-amélogenèse imparfaite Hypophosphatasie prénatale bénigne Mélorhéostose avec ostéopoecilie Hypophosphatasie infantile Syndrome de microdélétion 12q14 Hypophosphatasie de l'adulte Syndrome épiphyses ponctuées-hyperplasie ostéoclastique Syndrome d'exostoses-anétodermie-brachydactylie type E Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 7 Pycnoachondrogenèse Dysplasie acromésomélique type Hunter-Thompson Syndrome de Ramon Dysplasie acro-capito-fémorale Syndrome de déficience intellectuelle-calvitie-luxation de la rotule-acromicrie Rachitisme hypocalcémique résistant à la vitamine D Dysplasie anauxétique Dysplasie spondylo-épimétaphysaire liée à l'X Atélostéogenèse type I Ostéoporose liée à l'X avec fractures Syndrome d'achondroplasie sévère-retard de développement-acanthosis nigricans Chondrodysplasie métaphysaire type Schmid Syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets Chondrodysplasie métaphysaire autosomique récessive Chondrodysplasie ponctuée non rhizomélique Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type leptodactylique Dysplasie de Smith-McCort Dysplasie mésomélique type Savarirayan Dysplasie ostéodysplasique microcéphalique type Saul-Wilson Dysplasie pseudodiastrophique Ostéopétrose infantile avec dysplasie neuroaxonale Ostéopétrose intermédiaire Nanisme microcéphalique primordial type Dauber Syndrome de sclérose endostéale-hypoplasie cérébelleuse Dysplasie métaphysaire type Braun-Tinschert Brachydactylie type A6 Syndrome de lésions en anneau de la voûte crânienne-fragilité osseuse Synostose spondylo-carpo-tarsienne Génochondromatose type 1 Syndrome de myopathie à inclusions-maladie de Paget-démence fronto-temporale Dysspondyloenchondromatose Génochondromatose type 2 Acroscyphodysplasie métaphysaire Maladie osseuse rare Cutis laxa autosomique récessive type 2 Dyschondrostéose de Léri-Weill Dysplasie thoraco-laryngo-pelvienne Dysplasie fibreuse des os Dysplasie spondylo-dysplasique Dysplasie campomélique et maladies associées Ostéosclérose néonatale Syndrome d'Eiken Dysplasie cleido-crânienne et défaut d'ossification du crâne isolé Brachyolmie Syndrome de Silver-Russell dû à une mutation ponctuelle Syndrome d'ostéopénie-déficience intellectuelle-hypotrichose Syndrome tricho-dento-osseux Ostéoarthropathie hypertophique primitive Maladie de Caffey Dysplasie squelettique associée à CHST3 Campomélie type Cumming Chondrodysplasie métaphysaire type Jansen TMEM165-CDG Syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques Déformation de Madelung bilatérale Dysplasie diaphysaire tachetée Dysplasie spondylo-épiphysaire type Maroteaux Maladie des exostoses multiples Syndrome létal de Larsen-like Maladie d'Upington Fibrodysplasie ossifiante progressive Dysplasie spondylo-épimétaphysaire type Isidor-Toutain Dysplasie spondylo-métaphysaire type Czarny-Ratajczak Syndrome de Weissenbacher-Zweymuller Odontochondrodysplasie Chondrodysplasie létale type Moerman Syndrome de chondrodysplasie-différence du développement sexuel Syndrome de Yunis-Varon Dysplasie squelettique létale type Greenberg Dysplasie oto-spondylo-mégaépiphysaire Syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune Foramen pariétal avec hypoplasie claviculaire Dysostose cléido-crânienne Petite taille associée à SHOX Hypophosphatasie Syndrome de Mazabraud Dysplasie gnatho-diaphysaire Métachondromatose Chondrodysplasie métaphysaire type Spahr Syndrome de dysplasie métaphysaire-dysmorphie-brachydactylie Syndrome trichorhinophalangien type 1 Syndrome de Jeune Syndrome des côtes courtes-polydactylie Syndrome de Robinow autosomique récessif Dysplasie de Kniest Dysplasie cranio-ectodermique Chondrodysplasie ponctuée avec brachytéléphalangie Chondrodysplasie ponctuée type Toriello Dysplasie cranio-métaphysaire Cranio-ostéo-arthropathie Syndrome trichorhinophalangien type 2 Syndrome de dysplasie spondylo-métaphysaire-hypotrichose Syndrome de microtie-anomalies squelettiques-petite taille Dysplasie spondylo-épimétaphysaire type Bieganski Déficit d'adhésion leucocytaire type III Syndrome d'anomalies de l'ossification-retard psychomoteur Syndrome oto-palato-digital type 1 Syndrome oto-palato-digital type 2 Syndrome de Marshall Syndrome de dysplasie osseuse terminale-défauts de pigmentation Brachydactylous dwarfism, Mseleni type Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism, Reinhardt-Pfeiffer type Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism type II Micromelic dwarfism, Fryns type Microcephalic primordial dwarfism, Toriello type Parastremmatic dwarfism Lenz-Majewski hyperostotic dwarfism Frank-Ter Haar syndrome Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Diastrophic dysplasia Lipodystrophy-intellectual disability-deafness syndrome Oculodentodigital dysplasia Autosomal recessive malignant osteopetrosis High bone mass osteogenesis imperfecta Saldino-Mainzer syndrome Dysplasia of head of femur, Meyer type Opsismodysplasia Orofaciodigital syndrome type 4 Progressive osseous heteroplasia Autosomal recessive cutis laxa type 2B Blount disease Bruck syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Autosomal recessive cutis laxa type 2, classic type Autosomal recessive distal osteolysis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopetrosis and related disorders Osteogenesis imperfecta type 1 Multicentric osteolysis-nodulosis-arthropathy spectrum Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-pseudoglioma syndrome Lateral meningocele syndrome Silver-Russell syndrome due to an imprinting defect of 11p15 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Pachydermoperiostosis Osteogenesis imperfecta type 3 Dysosteosclerosis Pycnodysostosis Blomstrand lethal chondrodysplasia Dysostosis, Stanescu type Kyphomelic dysplasia Thoracomelic dysplasia Dysplasia epiphysealis hemimelica Schwartz-Jampel syndrome Schimke immuno-osseous dysplasia Seckel syndrome Mesomelic dysplasia, Kantaputra type Ulna metaphyseal dysplasia syndrome Bone dysplasia, lethal Holmgren type Bone dysplasia, Azouz type Spondyloenchondrodysplasia Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Perinatal lethal hypophosphatasia Spondyloepiphyseal dysplasia, Reardon type X-linked hypophosphatemia Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepimetaphyseal dysplasia, aggrecan type Madelung deformity Spondyloepiphyseal dysplasia congenita Odontohypophosphatasia Achondrogenesis Acrodysostosis Hajdu-Cheney syndrome Pyle disease Acromicric dysplasia Angel-shaped phalango-epiphyseal dysplasia Delayed membranous cranial ossification Fibrochondrogenesis Primary bone dysplasia Atelosteogenesis type II Juvenile hyaline fibromatosis Atelosteogenesis type III Otopalatodigital syndrome spectrum disorder