SE-ATLAS

Spondyloepiphyseal dysplasia, Maroteaux type Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Fibrochondrogenesis Robinow syndrome Fibrous dysplasia of bone Terminal osseous dysplasia-pigmentary defects syndrome Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Achondrogenesis Auriculoosteodysplasia Microcephalic primordial dwarfism, Dauber type Spondylometaphyseal dysplasia, A4 type Autosomal dominant otospondylomegaepiphyseal dysplasia Short rib-polydactyly syndrome, Verma-Naumoff type Multiple epiphyseal dysplasia Short rib-polydactyly syndrome, Saldino-Noonan type Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Autosomal recessive cutis laxa type 2A Spondyloepimetaphyseal dysplasia, Isidor-Toutain type Spondylometaphyseal dysplasia Schwartz-Jampel syndrome Juvenile hyaline fibromatosis Familial hypocalciuric hypercalcemia type 2 Oculodentodigital dysplasia Multiple non-ossifying fibromatosis Childhood-onset hypophosphatasia Thanatophoric dysplasia type 2 Osteogenesis imperfecta Monostotic fibrous dysplasia X-linked dominant chondrodysplasia punctata Autosomal recessive malignant osteopetrosis Familial hypocalciuric hypercalcemia type 3 Polyostotic fibrous dysplasia Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Otopalatodigital syndrome Ossification anomalies-psychomotor developmental delay syndrome Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Seckel syndrome Spondyloepiphyseal dysplasia, Kimberley type Adult hypophosphatasia Spondyloepiphyseal dysplasia tarda Spondyloepimetaphyseal dysplasia, PAPSS2 type Dyschondrosteosis-nephritis syndrome Osteopetrosis-hypogammaglobulinemia syndrome Shwachman-Diamond syndrome Spondylometaphyseal dysplasia, Czarny-Ratajczak type Rare bone disease Spondyloepiphyseal dysplasia tarda, Kohn type Infantile systemic hyalinosis Reunion Island Larsen-like syndrome Silver-Russell syndrome Autosomal recessive cutis laxa type 2B Spondyloepiphyseal dysplasia, Reardon type Acrodysostosis Familial hypocalciuric hypercalcemia Isolated osteopoikilosis Ciliopathies with major skeletal involvement Mandibuloacral dysplasia with type A lipodystrophy Upington disease Autosomal recessive cutis laxa type 2, classic type Primary hypertrophic osteoarthropathy Odontohypophosphatasia SHOX-related short stature Hajdu-Cheney syndrome Eiken syndrome Mandibuloacral dysplasia with type B lipodystrophy Spondyloepiphyseal dysplasia, MacDermot type Spondylocarpotarsal synostosis Joubert syndrome with Jeune asphyxiating thoracic dystrophy Mandibuloacral dysplasia Enlarged parietal foramina CHILD syndrome Pyknoachondrogenesis Multiple epiphyseal dysplasia and pseudoachondroplasia Short stature, Brussels type Multiple metaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Bieganski type Campomelic dysplasia Achondrogenesis type 2 Hypocalcemic vitamin D-resistant rickets Cole-Carpenter syndrome Pyle disease Short rib-polydactyly syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Osteopenia-intellectual disability-sparse hair syndrome Achondrogenesis type 1B Thin ribs-tubular bones-dysmorphism syndrome Hyperostosis corticalis generalisata Autosomal recessive Robinow syndrome Leukocyte adhesion deficiency type III Silver-Russell syndrome due to a point mutation Spondylodysplastic dysplasia Coxoauricular syndrome TMEM165-CDG Neonatal severe primary hyperparathyroidism Acromesomelic dysplasia Microcephalic primordial dwarfism Achondrogenesis type 1A Dysosteosklerose Dysplasie, akromele Stickler-Syndrom Kampomele Dysplasie und verwandte Krankheiten Brachyolmie Typ 1, Toledo-Typ Dysplasie, mesomele und rhizo-mesomele Dysplasie, spondyloepimetaphysäre, Typ Aggrecan Brachyolmie Typ 2 Rachitis, hypokalzämische, Vitamin D-abhängige Primäre Knochendysplasie mit multiplen Gelenkdislokationen Akroscyphodysplasie, metaphysäre Dysplasie, kraniodiaphysäre Goldblatt-Syndrom Dysplasie, dünner Knochen Dysplasie, spondyloepimetaphysäre, Typ Geneviève Dysplasie, akromesomele, Typ Hunter-Thompson Brachyolmie Typ 3 Dysplasie, akromikrische Skelettdysplasie mit Wormschen Knochen-multiplen Frakturen-Dentinogenesis imperfecta-Syndrom Marshall-Syndrom Kenny-Caffey-Syndrom Dysplasie, kranioektodermale Dysplasie, dyssegmentale, Typ Rolland-Desbuquois Sklerosteose Chondrodysplasia punctata Ellis Van Creveld-Syndrom McCune-Albright-Syndrom Dysplasie, epiphysäre multiple, durch Kollagen 9-Anomalie Primäre Knochendysplasie mit erniedrigter Knochendichte Spondyloepimetaphysäre Dysplasie, MATN3-Gen-assoziierte Dysplasie, epiphysäre multiple, Typ 1 Primäre Knochendysplasie mit erhöhter Knochendichte X-chromosomale Hyperostose der Schädelkalotte Opsismodysplasie Ramon-Syndrom Dysplasie, engelförmige phalango-epiphysäre Achondroplasie Hypochondroplasie Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom Noonan-Syndrom Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel Dysplastische kortikale Hyperostose Typ Kozlowski-Tsuruta FGFR2-abhängige Dysplasie mit gekrümmten Knochen Atelosteogenesis Typ II Kleinwuchs-Onychodysplasie-Gesichtsdysmorphie-Hypotrichose-Syndrom Primäre Knochendysplasie mit desorganisierter Skelettentwicklung Dysplasie, kranio-metaphysäre Dysostose, periphere Rachitis, hypophosphatämische, autosomal-rezessive Dysplasie, spondylometaphysäre, Typ Schmidt Ollier-Krankheit Dysplasie, akro-capito-femorale Kleidokraniale Dysplasie und isolierten kranialen Ossifikationsdefekt Stickler-Syndrom, autosomal-rezessives Kranio-Osteoarthropathie 3M-Syndrom Tricho-rhino-phalangeales Syndrom Dysostose Typ Stanescu Nestor-Guillermo-Progeroid-Syndrom Chondrodysplasie mit Gelenkkontrakturen, gPAPP-Typ Kapilläre Fehlbildung - arteriovenöse Fehlbildung Omodysplasie Atelosteogenesis Typ III Schneckenbecken-Dysplasie Kurzrippen-Polydaktylie-Syndrom Typ Beemer-Langer Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 Dysplasie, epiphysäre multiple, Typ Beighton Oro-fazio-digitales Syndrom Typ 4 Kurzrippen-Polydaktylie-Syndrom Typ Majewski Hypochondrogenesie Brachyolmie Typ 1, Hobaek-Typ Dysplasie, epiphysäre multiple, Typ 4 Dysplasie, epiphysäre multiple, Typ 5 Dysplasie, spondylometaphysäre, Typ Kozlowski Dysplasie, neonatale osteosklerotische Osteolyse, primäre Dysplasie, spondylometaphysäre, Corner-fracture-Typ Primäre Knochendysplasie mit Knochenmineralisationsdefekt Dysplasie, spondylometaphysäre, Typ Sedaghatian SLC39A13-assoziiertes spondylodysplastisches Ehlers-Danlos-Syndrom Hypophosphatasie Osteoporose mit Knochenbrüchen, X-chromosomal Kleinwuchs mit Brachydaktylie vom Typ Mseleni Hypophosphatämische Rachitis Dysplasie, kyphomele Kniest-ähnliche Dysplasie, letale Dysplasie, hämatodiaphysäre, Typ Ghosal Melnick-Needles-Syndrom Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose Dysplasie, thorakomelische Melorheostose Wolcott-Rallison-Syndrom Dysplasie, epiphysäre multiple, Typ Lowry Gemischte sklerosierende Knochendystrophie mit extraskelettalen Manifestationen Kenny-Caffey-Syndrom, autosomal-rezessives Kleinwuchs, geleophysischer Larsen-ähnliches Syndrom, B3GAT3 Typ Geroderma osteodysplastica Ossifikationsverzögerung des Schädels, membranöse Heteroplasie, progressive ossäre Kenny-Caffey-Syndrom, autosomal-dominantes Brachyolmie-Amelogenesis imperfecta-Syndrom Osteokraniostenose Omodysplasie, autosomal-dominante Form Boomerang-Dysplasie Chondrodysplasie, letale Osteosklerose - Ichthyose - vorzeitige Ovarialinsuffizienz Chondrodysplasie, metaphysäre, Typ Schmid Dysplasie, epiphysäre multiple, Typ Al-Gazali Multizentrische Osteolyse-Nodulose-Arthropathie-Spektrum Knorpel-Haar-Hypoplasie Dysplasie, spondylometaphysäre, autosomal-rezessive, Typ Mégarbané Omodysplasie, autosomal-rezessive Form Osteochondromatose, karpotarsale Roifman-Syndrom Chondrodysplasia punctata, nicht-rhizomeler Typ Mesomeler Kleinwuchs-Gaumenspalte-Kamptodaktylie-Syndrom 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 Syndrome de nodulose-arthropathie-ostéolyse Syndrome oto-palato-digital type 1 Ostéolyse expansive familiale Dysostose cléido-crânienne Hypophosphatasie prénatale bénigne Syndrome de Stickler type 2 Dysspondyloenchondromatose Syndrome de microdélétion 12q14 Syndrome cléido-rhizomélique Brachydactylie type A6 Syndrome de Mazabraud Troubles du métabolisme de la vitamine D Génochondromatose type 1 Syndrome de Stickler type 1 Campomélie type Cumming Déformation de Madelung Syndrome de craniosynostose-anomalies anales-porokératose Dysplasie dyssegmentaire type Silverman-Handmaker Syndrome de Silver-Russell dû à un défaut d'empreinte de la région 11p15 Syndrome trichorhinophalangien type 2 Dysplasie osseuse primaire avec micromélie Dysplasie spondylo-épiphysaire congénitale Syndrome de Larsen Dysplasie squelettique associée à CHST3 Dysplasie de Smith-McCort Rachitisme hypophosphatémique héréditaire avec hypercalciurie Dysplasie gnatho-diaphysaire Syndrome de Silver-Russell dû à une microduplication 11p15 Syndrome rhizomélique type Urbach Atélostéogenèse type I Syndrome de microtie-anomalies squelettiques-petite taille Dysplasie osseuse primaire avec ossification progressive de la peau, des muscles squelettiques, fascias, tendons et ligaments Chondrodysplasie ponctuée type Sheffield Syndrome d'incurvation latérale sévère du tibia-petite taille-omoplate ailée modérée-dysmorphie faciale modérée Maladie de Camurati-Engelmann Syndrome de Richieri-Costa-da Silva Spectre phénotypique des ostéodysplasies oto-palato-digitales Syndrome d'Alazami Chondrodysplasie ponctuée tibio-métacarpienne Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 11 Hypophosphatasie infantile Syndrome de Dyggve-Melchior-Clausen Chondrodysplasie ponctuée avec brachytéléphalangie Syndrome de Maffucci Dysplasie spondylo-métaphysaire type Golden Dysplasie spondylo-métaphysaire axiale Dysplasie rhizomélique de Patterson-Lowry Dyschondrostéose de Léri-Weill Chondrodysplasie ponctuée type Toriello Mélorhéostose avec ostéopoecilie Syndrome de la peau ridée Syndrome de Robinow autosomique dominant Génochondromatose type 2 Syndrome de Noonan et syndrome associé