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 Dysosteosclerosis Acromelic dysplasia Stickler syndrome Campomelic dysplasia and related disorders Brachyolmia type 1, Toledo type Mesomelic and rhizo-mesomelic dysplasia Spondyloepimetaphyseal dysplasia, aggrecan type Brachyolmia, Maroteaux type Hypocalcemic vitamin D-dependent rickets Primary bone dysplasia with multiple joint dislocations Metaphyseal acroscyphodysplasia 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