SE-ATLAS

Dysplasie spondylo-épiphysaire type Maroteaux Syndrome d'incurvation congénitale des os longs-petite taille-dolichomacrocéphalie-hypertélorisme oculaire Syndrome de dysplasie spondylo-métaphysaire-avant-bras incurvé-dysmorphie faciale Fibrochondrogenèse Syndrome de Robinow Dysplasie fibreuse des os Syndrome de dysplasie osseuse terminale-défauts de pigmentation Syndrome de dysplasie spondylo-épiphysaire-craniosynostose-fente palatine-cataracte-déficience intellectuelle Achondrogenèse Auriculo-ostéodysplasie Nanisme microcéphalique primordial type Dauber Dysplasie spondylo-métaphysaire type A4 Dysplasie oto-spondylo-mégaépiphysaire autosomique dominante Syndrome des côtes courtes-polydactylie type Verma-Naumoff Dysplasie épiphysaire multiple Syndrome des côtes courtes-polydactylie type Saldino-Noonan Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire Cutis laxa autosomique récessive type 2A Dysplasie spondylo-épimétaphysaire type Isidor-Toutain Dysplasie spondylo-métaphysaire Syndrome de Schwartz-Jampel Fibromatose hyaline juvénile Hypercalcémie hypocalciurique familiale type 2 Dysplasie oculo-dento-digitale Fibromatose multiple non ossifiante Hypophosphatasie de l'enfant Dysplasie thanatophore type 2 Ostéogenèse imparfaite Dysplasie fibreuse monostotique Chondrodysplasie ponctuée dominante liée à l'X Ostéopétrose maligne autosomique récessive Hypercalcémie hypocalciurique familiale type 3 Dysplasie fibreuse polyostotique Arthrose précoce avec dysplasie spondyloépiphysaire intermédiaire due à une mutation du gène COL2A1 Syndrome oto-palato-digital Syndrome d'anomalies de l'ossification-retard psychomoteur Syndrome de dysplasie spondylo-épiphysaire-brachydactylie-trouble du langage Syndrome de Seckel Dysplasie spondylo-épiphysaire type Kimberley Hypophosphatasie de l'adulte Dysplasie spondylo-épiphysaire tardive Dysplasie spondylo-épimétaphysaire type PAPPS2 Syndrome de dyschondrostéose-néphropathie Syndrome d'ostéopétrose-hypogammaglobulinémie Syndrome de Shwachman-Diamond Dysplasie spondylo-métaphysaire type Czarny-Ratajczak Maladie osseuse rare Dysplasie spondylo-épiphysaire tardive type Kohn Hyalinose systémique infantile Syndrome Larsen-like de la Réunion Syndrome de Silver-Russell Cutis laxa autosomique récessive type 2B Dysplasie spondylo-épiphysaire type Reardon Acrodysostose Hypercalcémie hypocalciurique familiale Ostéopoecilie isolée Ciliopathies avec atteinte osseuse majeure Dysplasie mandibulo-acrale avec lipodystrophie de type A Maladie d'Upington Cutis laxa autosomique récessive type 2 classique Ostéoarthropathie hypertophique primitive Odontohypophosphatasie Petite taille associée à SHOX Syndrome de Hajdu-Cheney Syndrome d'Eiken Dysplasie mandibulo-acrale avec lipodystrophie de type B Dysplasie spondylo-épiphysaire type MacDermot Synostose spondylo-carpo-tarsienne Syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune Dysplasie mandibulo-acrale Lacunes pariétales Syndrome CHILD Pycnoachondrogenèse Dysplasie multi-épiphysaire et pseudoachondroplasie Petite taille type Bruxelles Dysplasie métaphysaire multiple Dysplasie spondylo-épimétaphysaire type Bieganski Dysplasie campomélique Achondrogenèse type 2 Rachitisme hypocalcémique résistant à la vitamine D Syndrome de Cole-Carpenter Maladie de Pyle Syndrome des côtes courtes-polydactylie Syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale Syndrome d'ostéopénie-déficience intellectuelle-hypotrichose Achondrogenèse type 1B Syndrome de côtes fines-os tubulaires fins-dysmorphie Hyperostose corticale généralisée Syndrome de Robinow autosomique récessif Déficit d'adhésion leucocytaire type III Syndrome de Silver-Russell dû à une mutation ponctuelle Dysplasie spondylo-dysplasique Syndrome coxo-auriculaire TMEM165-CDG Hyperparathyroïdie primitive sévère néonatale Dysplasie acromésomélique Nanisme microcéphalique primordial Achondrogenèse type 1A Dysostéosclérose Dysplasie acromélique Syndrome de Stickler Dysplasie campomélique et maladies associées Brachyolmie type 1 de Toledo Dysplasie mésomélique et rhizo-mésomélique Dysplasie spondylo-épimétaphysaire type aggrécane Brachyolmie type Maroteaux Rachitisme hypocalcémique vitamine D-dépendant Dysplasie osseuse primaire avec luxations articulaires multiples Acroscyphodysplasie métaphysaire Craniodiaphyseal dysplasia Odontochondrodysplasia Slender bone dysplasia Spondyloepimetaphyseal dysplasia, Geneviève type Acromesomelic dysplasia, Hunter-Thompson type Autosomal dominant brachyolmia Acromicric dysplasia Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Marshall syndrome Kenny-Caffey syndrome Cranioectodermal dysplasia Dyssegmental dysplasia, Rolland-Desbuquois type Sclerosteosis Chondrodysplasia punctata Ellis Van Creveld syndrome McCune-Albright syndrome Multiple epiphyseal dysplasia due to collagen 9 anomaly Primary bone dysplasia with decreased bone density Spondyloepimetaphyseal dysplasia, matrilin-3 type Multiple epiphyseal dysplasia type 1 Primary bone dysplasia with increased bone density X-linked calvarial hyperostosis Opsismodysplasia Ramon syndrome Angel-shaped phalango-epiphyseal dysplasia Achondroplasia Hypochondroplasia Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Noonan syndrome Microcephalic primordial dwarfism due to ZNF335 deficiency Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type FGFR2-related bent bone dysplasia Atelosteogenesis type II Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Primary bone dysplasia with disorganized development of skeletal components Craniometaphyseal dysplasia OBSOLETE: Peripheral dysostosis Autosomal recessive hypophosphatemic rickets Spondylometaphyseal dysplasia, Schmidt type Ollier disease Acrocapitofemoral dysplasia Cleidocranial dysplasia and isolated cranial ossification defect Autosomal recessive Stickler syndrome Cranio-osteoarthropathy 3M syndrome Trichorhinophalangeal syndrome Dysostosis, Stanescu type Nestor-Guillermo progeria syndrome Chondrodysplasia with joint dislocations, gPAPP type Capillary malformation-arteriovenous malformation Omodysplasia Atelosteogenesis type III Schneckenbecken dysplasia Short rib-polydactyly syndrome, Beemer-Langer type Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Multiple epiphyseal dysplasia, Beighton type Orofaciodigital syndrome type 4 Short rib-polydactyly syndrome, Majewski type Hypochondrogenesis Brachyolmia type 1, Hobaek type Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Spondylometaphyseal dysplasia, Kozlowski type Neonatal osteosclerotic dysplasia Primary osteolysis Spondylometaphyseal dysplasia, 'corner fracture' type Primary bone dysplasia with defective bone mineralization Spondylometaphyseal dysplasia, Sedaghatian type SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Hypophosphatasia X-linked osteoporosis with fractures Brachydactylous dwarfism, Mseleni type Hypophosphatemic rickets Kyphomelic dysplasia Lethal Kniest-like dysplasia Ghosal hematodiaphyseal dysplasia Melnick-Needles syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Thoracomelic dysplasia Melorheostosis Wolcott-Rallison syndrome Multiple epiphyseal dysplasia, Lowry type Mixed sclerosing bone dystrophy with extra-skeletal manifestations Autosomal recessive Kenny-Caffey syndrome Geleophysic dysplasia Larsen-like syndrome, B3GAT3 type Geroderma osteodysplastica Delayed membranous cranial ossification Progressive osseous heteroplasia Autosomal dominant Kenny-Caffey syndrome Brachyolmia-amelogenesis imperfecta syndrome Osteocraniostenosis Autosomal dominant omodysplasia Boomerang dysplasia Lethal chondrodysplasia Osteosclerosis-ichthyosis-premature ovarian failure syndrome Metaphyseal chondrodysplasia, Schmid type Multiple epiphyseal dysplasia, Al-Gazali type Multicentric osteolysis-nodulosis-arthropathy spectrum Cartilage-hair hypoplasia Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Autosomal recessive omodysplasia Carpotarsal osteochondromatosis Roifman syndrome Non-rhizomelic chondrodysplasia punctata Mesomelic dwarfism-cleft palate-camptodactyly syndrome Acromesomelic dysplasia, Maroteaux type Weissenbacher-Zweymuller syndrome Blount disease Intellectual disability-balding-patella luxation-acromicria syndrome Rhizomelic chondrodysplasia punctata Langer mesomelic dysplasia Mesomelia-synostoses syndrome Mesomelic dysplasia, Nievergelt type Upper limb mesomelic dysplasia Nasu-Hakola disease Epiphyseal stippling-osteoclastic hyperplasia syndrome Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Mesomelic dwarfism, Reinhardt-Pfeiffer type Spondylocamptodactyly syndrome Dysplasia of head of femur, Meyer type Bruck syndrome Metatropic dysplasia Thoracolaryngopelvic dysplasia Metachondromatosis Microcephalic osteodysplastic primordial dwarfism types I and III Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Chondroectodermal dysplasia with night blindness Brachydactyly-short stature-retinitis pigmentosa syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Microcephalic osteodysplastic primordial dwarfism type II Multiple epiphyseal dysplasia, with miniepiphyses Metaphyseal chondrodysplasia, Spahr type Multicentric carpo-tarsal osteolysis with or without nephropathy Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Cherubism Fibular aplasia-complex brachydactyly syndrome Multiple osteochondromas Autosomal recessive distal osteolysis syndrome Dysplasia epiphysealis hemimelica Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Osteomesopyknosis Micromelic dwarfism, Fryns type Torg-Winchester syndrome Lowry-Wood syndrome Grant syndrome Larsen-like osseous dysplasia-short stature syndrome High bone mass osteogenesis imperfecta Osteopathia striata-pigmentary dermopathy-white forelock syndrome Metaphyseal chondrodysplasia, Kaitila type Microcephalic primordial dwarfism, Toriello type Acromesomelic dysplasia, Grebe type Lethal Larsen-like syndrome Osteopathia striata-cranial sclerosis syndrome Exostoses-anetodermia-brachydactyly type E syndrome Albers-Schönberg osteopetrosis Frontometaphyseal dysplasia X-linked hypophosphatemia Osteopetrosis and related disorders Osteoglosphonic dysplasia Parastremmatic dwarfism Anauxetic dysplasia Desmosterolosis Autosomal dominant osteopetrosis type 1 Spondyloepimetaphyseal dysplasia congenita, Strudwick type Lethal chondrodysplasia, Moerman type Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Autosomal dominant hypophosphatemic rickets Schimke immuno-osseous dysplasia Platyspondylic dysplasia, Torrance type Lethal chondrodysplasia, Seller type Osteopetrosis with renal tubular acidosis Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Hutchinson-Gilford progeria syndrome Chondrodysplasia-difference of sex development syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome X-linked spondyloepimetaphyseal dysplasia Lethal recessive chondrodysplasia Lethal osteosclerotic bone dysplasia Craniofacial conodysplasia Phalangeal microgeodic syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Spondyloepimetaphyseal dysplasia, Shohat type Trichorhinophalangeal syndrome type 1 Autosomal recessive cutis laxa type 2 Parietal foramina with clavicular hypoplasia Spondyloepiphyseal dysplasia with metatarsal shortening Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Metaphyseal chondrodysplasia, Jansen type Osteoporosis-pseudoglioma syndrome Spondyloepimetaphyseal dysplasia, Irapa type Mesomelic dysplasia, Savarirayan type Desbuquois syndrome Lateral meningocele syndrome Dacryocystitis-osteopoikilosis syndrome Greenberg dysplasia Hallermann-Streiff syndrome Endosteal hyperostosis, Worth type Yunis-Varon syndrome Mesomelic dysplasia, Kantaputra type Otospondylomegaepiphyseal dysplasia Microcephalic osteodysplastic dysplasia, Saul-Wilson type Thanatophoric dysplasia Spondyloepimetaphyseal dysplasia, Missouri type IMAGe syndrome Fibrodysplasia ossificans progressiva Ulna metaphyseal dysplasia syndrome Jeune syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Brachyolmia Astley-Kendall dysplasia Madelung deformity, unilateral Intermediate osteopetrosis SPONASTRIME dysplasia Lenz-Majewski hyperostotic dwarfism Spondylo-megaepiphyseal-metaphyseal dysplasia Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Pseudodiastrophic dysplasia Madelung deformity, bilateral Pseudoachondroplasia Progressive pseudorheumatoid arthropathy of childhood Hip dysplasia, Beukes type Spondyloepimetaphyseal dysplasia with joint laxity Pachydermoperiostosis Bone dysplasia, lethal Holmgren type Stüve-Wiedemann syndrome Infantile osteopetrosis with neuroaxonal dysplasia Perinatal lethal hypophosphatasia Blomstrand lethal chondrodysplasia Weismann-Netter syndrome Bone dysplasia, Azouz type Talo-patello-scaphoid osteolysis X-linked skeletal dysplasia-intellectual disability syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Juvenile Paget disease Lipodystrophy-intellectual disability-deafness syndrome Saldino-Mainzer syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Kniest dysplasia Spondyloepimetaphyseal dysplasia, Handigodu type Craniometadiaphyseal dysplasia, wormian bone type Diaphanospondylodysostosis Buschke-Ollendorff syndrome Dappled diaphyseal dysplasia Frank-Ter Haar syndrome Tricho-dento-osseous syndrome Endosteal sclerosis-cerebellar hypoplasia syndrome Cheirospondyloenchondromatosis Pycnodysostosis Metaphyseal dysplasia, Braun-Tinschert type Familial hypocalciuric hypercalcemia type 1 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Spondyloenchondrodysplasia Diastrophic dysplasia Caffey disease Spondyloperipheral dysplasia-short ulna syndrome Calvarial doughnut lesions-bone fragility syndrome Singleton-Merten dysplasia Spondylo-ocular syndrome Metaphyseal anadysplasia Spastic paraplegia-Paget disease of bone syndrome Hypocalcemic rickets Primary bone dysplasia Ehlers-Danlos/osteogenesis imperfecta syndrome Idiopathic juvenile osteoporosis Otopalatodigital syndrome type 2 Silver-Russell syndrome due to 7p11.2p13 microduplication Thanatophoric dysplasia type 1 Nodulosis-arthropathy-osteolysis syndrome Otopalatodigital syndrome type 1 Familial expansile osteolysis Cleidocranial dysplasia Prenatal benign hypophosphatasia Stickler syndrome type 2 Dysspondyloenchondromatosis 12q14 microdeletion syndrome Cleidorhizomelic syndrome Brachydactyly type A6 Mazabraud syndrome Disorders of vitamin D metabolism Genochondromatosis type 1 Stickler syndrome type 1 Campomelia, Cumming type Madelung deformity Craniosynostosis-anal anomalies-porokeratosis syndrome Dyssegmental dysplasia, Silverman-Handmaker type Silver-Russell syndrome due to an imprinting defect of 11p15 Trichorhinophalangeal syndrome type 2 Primary bone dysplasia with micromelia Spondyloepiphyseal dysplasia congenita Larsen syndrome CHST3-related skeletal dysplasia Smith-McCort dysplasia Hereditary hypophosphatemic rickets with hypercalciuria Gnathodiaphyseal dysplasia Silver-Russell syndrome due to 11p15 microduplication Rhizomelic syndrome, Urbach type Atelosteogenesis type I Ear-patella-short stature syndrome Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Chondrodysplasia punctata, Sheffield type Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Camurati-Engelmann disease Richieri Costa-da Silva syndrome Otopalatodigital syndrome spectrum disorder Alazami syndrome Chondrodysplasia punctata, tibial-metacarpal type Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Infantile hypophosphatasia Dyggve-Melchior-Clausen disease Brachytelephalangic chondrodysplasia punctata Maffucci syndrome Spondylometaphyseal dysplasia, Golden type Axial spondylometaphyseal dysplasia Rhizomelic dysplasia, Patterson-Lowry type Léri-Weill dyschondrosteosis Chondrodysplasia punctata, Toriello type Melorheostosis with osteopoikilosis Wrinkly skin syndrome Autosomal dominant Robinow syndrome Genochondromatosis type 2 Noonan syndrome and Noonan-related syndrome