SE-ATLAS

Cole-Carpenter syndrome Pfeiffer syndrome type 3 Hypochondrogenesis Autosomal dominant Kenny-Caffey syndrome Metaphyseal chondrodysplasia, Schmid type Léri-Weill dyschondrosteosis SHOX-related short stature Cantú syndrome Multiple osteochondromas Freeman-Sheldon syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Spondylometaphyseal dysplasia, Schmidt type Spondyloepimetaphyseal dysplasia, Missouri type X-linked dominant chondrodysplasia punctata Greig cephalopolysyndactyly syndrome Chondroectodermal dysplasia with night blindness Intermediate osteopetrosis Autosomal dominant multiple pterygium syndrome Brachyolmia Kenny-Caffey syndrome Fibrodysplasia ossificans progressiva Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Brachytelephalangic chondrodysplasia punctata Larsen syndrome Craniosynostosis-dysmorphism-brachydactyly syndrome Pseudoachondroplasia Omodysplasia Mesomelic dwarfism-cleft palate-camptodactyly syndrome Spondylometaphyseal dysplasia, A4 type Lipodystrophy-intellectual disability-deafness syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 4 Wiedemann-Steiner syndrome Brachyolmia-amelogenesis imperfecta syndrome Acrorenal syndrome Orofaciodigital syndrome type 3 Osteocraniostenosis Dyssegmental dysplasia, Silverman-Handmaker type Silver-Russell syndrome due to 11p15 microduplication Regressive spondylometaphyseal dysplasia Autosomal recessive brachyolmia Autosomal dominant spondylocostal dysostosis Thoracomelic dysplasia Short tarsus-absence of lower eyelashes syndrome Pelvis-shoulder dysplasia Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Cono-spondylar dysplasia Atelosteogenesis type II Femur-fibula-ulna complex Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia tarda, Kohn type Fraser syndrome Intellectual disability, Wolff type Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Robin sequence-oligodactyly syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome Mandibuloacral dysplasia with type A lipodystrophy Arthrogryposis multiplex congenita Orofaciodigital syndrome type 13 Spondylo-megaepiphyseal-metaphyseal dysplasia Lethal occipital encephalocele-skeletal dysplasia syndrome Autosomal dominant Robinow syndrome Acromesomelic dysplasia, Maroteaux type Mandibuloacral dysplasia with type B lipodystrophy Robinow syndrome Antley-Bixler syndrome Craniosynostosis-dental anomalies Short rib-polydactyly syndrome, Saldino-Noonan type Spondyloepimetaphyseal dysplasia, Shohat type Thanatophoric dysplasia type 2 Spondyloepimetaphyseal dysplasia, Irapa type Roifman syndrome Dyssegmental dysplasia, Rolland-Desbuquois type Say-Field-Coldwell syndrome Schneckenbecken dysplasia Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Verma-Naumoff type Hyperphalangy Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Sillence syndrome Spondyloepiphyseal dysplasia, Kimberley type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepiphyseal dysplasia tarda Multiple epiphyseal dysplasia due to collagen 9 anomaly Achondrogenesis type 2 Achondrogenesis type 1A Achondrogenesis type 1B 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 Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Sedaghatian type Progressive pseudorheumatoid arthropathy of childhood Multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple epiphyseal dysplasia, with miniepiphyses Anauxetic dysplasia Spondyloepimetaphyseal dysplasia congenita, Strudwick type X-linked spondyloepimetaphyseal dysplasia Reunion Island Larsen-like syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome SPONASTRIME dysplasia Spondyloepimetaphyseal dysplasia with joint laxity Symphalangism with multiple anomalies of hands and feet Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Non-rhizomelic chondrodysplasia punctata Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Astley-Kendall dysplasia Thoracolaryngopelvic dysplasia Spondylometaphyseal dysplasia Chondrodysplasia punctata Hypoplastic tibiae-postaxial polydactyly syndrome Ellis Van Creveld syndrome CHST3-related skeletal dysplasia Camptobrachydactyly Isolated Klippel-Feil syndrome Lethal Kniest-like dysplasia Spondyloepiphyseal dysplasia, Stanescu type Spondyloepimetaphyseal dysplasia, Handigodu type Dappled diaphyseal dysplasia Spondyloepiphyseal dysplasia, Maroteaux type Larsen-like osseous dysplasia-short stature syndrome Lethal Larsen-like syndrome Spondyloepimetaphyseal dysplasia, Isidor-Toutain type Spondylometaphyseal dysplasia, Czarny-Ratajczak type Tarsal-carpal coalition syndrome Greenberg dysplasia Otospondylomegaepiphyseal dysplasia Cleidorhizomelic syndrome Melhem-Fahl syndrome Spondyloepiphyseal dysplasia with metatarsal shortening Jeune syndrome Short rib-polydactyly syndrome NEK9-related lethal skeletal dysplasia Larsen-like syndrome, B3GAT3 type Chondrodysplasia punctata, Toriello type Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia, Geneviève type Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 3 Brachydactylous dwarfism, Mseleni type Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Metatropic dysplasia Thanatophoric dysplasia Spondylometaphyseal dysplasia, Golden type Axial spondylometaphyseal dysplasia Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Diastrophic dysplasia Fibular dimelia-diplopodia syndrome Dysplasie épiphysaire hémimélique Syndrome de Furhmann Dysplasie immuno-osseuse de Schimke Dysplasie osseuse létale type Holmgren-Forsell Dysplasie spondylo-enchondrale Syndrome de dysplasie spondylo-périphérique-cubitus court Syndrome de dysplasie spondylo-épiphysaire-craniosynostose-fente palatine-cataracte-déficience intellectuelle Dysplasie thanatophore type 1 Dysplasie spondylo-épiphysaire type MacDermot Dysplasie spondylo-épimétaphysaire type aggrécane Dysplasie spondylo-épiphysaire congénitale Syndrome de pouce triphalangé-brachyectrodactylie Syndrome de pouce triphalangé-polysyndactylie Syndrome des pouces en adduction-arthrogrypose, type Christian Syndrome épiphyses ponctuées-hyperplasie ostéoclastique Acheiropodie Achondrogenèse Dysplasie acropectorovertébrale Complexe de Gollop-Wolfgang Dysplasie acromicrique Fibrochondrogenèse Syndrome oro-facio-digital type 14 Syndrome de petite taille-brachydactylie-dysmorphie Syndrome oro-facio-digital type 12 Anadysplasie métaphysaire Syndrome de Muenke Syndrome rhizomélique type Urbach Syndrome de Gorlin-Chaudhry-Moss Syndrome de ptosis-mouvement oculaire supérieur limité-absence de point lacrymal Syndrome d'ankyloblépharon filiforme-fente palatine Dysplasie acromésomélique type Grebe Ostéopétrose d'Albers-Schönberg Syndrome de Hallermann-Streiff Syndrome de Hallermann-Streiff-like Syndrome de Hunter-McAlpine Syndrome cérébrooculonasal Syndrome de Pfeiffer type 2 Syndrome de Pfeiffer type 1 Dysostose diaphano-spondylaire Syndrome d'Apert Syndrome d'aphalangie-syndactylie-microcéphalie Syndrome SHORT Syndrome d'anneaux de constriction Dysplasie fibreuse polyostotique Syndrome d'hypospadias-hypertélorisme-colobome et surdité Dysplasie épiphysaire multiple type Lowry Complexe Xeroderma pigmentosum-syndrome de Cockayne Dysplasie acromélique OBSOLETE : Dysostose périphérique Syndrome de Stüve-Wiedemann Dysplasie campomélique Syndrome de Kenny-Caffey autosomique récessif Hypoplasie unilatérale congénitale du muscle abaisseur de l'angle de la bouche Omodysplasie autosomique récessive Omodysplasie autosomique dominante Forme symptomatique du syndrome de Coffin-Lowry de la femme porteuse Nanisme microcéphalique primordial Syndrome de surdité-oreille anormale-paralysie faciale Syndrome des synostoses multiples Syndrome d'hypertélorisme-microtie-fente faciale Atélostéogenèse type I Syndrome des ptérygium multiples Syndrome de surdité-syndrome craniofacial Dysplasie platyspondylique type Torrance Chondrodysplasie métaphysaire autosomique récessive Chondrodysplasie ponctuée rhizomélique Dysplasie de Smith-McCort Dysplasie mésomélique type Savarirayan Syndrome d'Alazami Syndrome IMAGe Dysplasie ostéodysplasique microcéphalique type Saul-Wilson Dysplasie pseudodiastrophique Ostéopétrose infantile avec dysplasie neuroaxonale Syndrome de Cenani-Lenz Syndrome cranio-facio-fronto-digital Syndrome de Cockayne Nanisme microcéphalique primordial type Dauber Syndrome de Coffin-Lowry Dysplasie cranio-métadiaphysaire type os wormien Dysplasie métaphysaire type Braun-Tinschert Dysplasie de Singleton-Merten Syndrome de Cornelia de Lange Syndrome FOXP1 Syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Synostose spondylo-carpo-tarsienne Génochondromatose type 1 Syndrome branchio-otique Dysspondyloenchondromatose Syndrome de Barber-Say Syndrome ischio-vertébral Syndrome de Bartsocas-Papas Acroscyphodysplasie métaphysaire Syndrome de Carpenter Syndrome blépharo-naso-facial Ostéopoecilie isolée Syndrome d'Ascher Syndrome de Dubowitz Syndrome de Dyggve-Melchior-Clausen Dysplasie en boomerang Dysplasie multi-épiphysaire et pseudoachondroplasie Dysplasie métaphysaire multiple Dysplasie épiphysaire multiple Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire Syndrome de Goodman Syndrome de dysostose mandibulo-faciale-microcéphalie Syndrome de brachymorphie-onychodysplasie-dysphalangie Syndrome de Juberg-Hayward Syndrome de Silver-Russell dû à une mutation ponctuelle Syndrome Kabuki Syndrome de Sanjad-Sakati Syndrome de Buschke-Ollendorff Syndrome de kératose folliculaire-nanisme-atrophie cérébrale Syndrome de trigonocéphalie-anomalies des extrémités Maladie d'Ollier Syndrome de trigonocéphalie-nez bifide-anomalies des extrémités Syndrome de trigonocéphalie-petite taille-retard de croissance Syndrome angio-ostéo-hypertrophique Chondrodysplasie métaphysaire type Jansen Syndrome de camptodactylie-contractures articulaires-anomalies osseuses de la face Camptodactylie de Guadalajara type 2 Camptodactylie de Guadalajara type 1 Maladie de Camurati-Engelmann Syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques Syndrome de Carey-Fineman-Ziter Paralysie faciale congénitale héréditaire isolée Syndrome de déficience intellectuelle-dysmorphie faciale-anomalies des mains Syndrome vélo-facio-squelettique Syndrome de paralysie faciale congénitale héréditaire-surdité variable Syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-bulles filtrantes spontanées Syndrome Charlie M Syndrome de macrosomie-microphtalmie-fente palatine Syndrome de microcephalie-petite taille-déficience intellectuelle-dysmorphie faciale Syndrome de chondrodysplasie-différence du développement sexuel Syndrome de Van den Ende-Gupta Syndrome de Marden-Walker Syndrome de Melnick-Needles Syndrome COFS Syndrome de colobome maculaire-brachydactylie type B Syndrome de mésomélie-synostoses Dysplasie mésomélique isolée de l'avant bras Syndrome de dysostose métaphysaire-déficience intellectuelle-surdité Syndrome de dysplasie métaphysaire-dysmorphie-brachydactylie Syndrome de malformation de Klippel-Feil-myopathie-dysmorphie faciale Syndrome de Robinow autosomique récessif Dysplasie de Kniest Syndrome cranio-digital-déficience intellectuelle Syndrome de Weill-Marchesani Odontochondrodysplasie Dysplasie squelettique avec os wormien-fractures multiples-dentinogenèse imparfaite Syndrome Patterson-Stevenson-Fontaine Chondrodysplasie létale autosomique récessive Syndrome de Desbuquois Syndrome de Coffin-Siris Syndrome FATCO Syndrome Noonan-like avec leucémie myélomonocytaire juvénile Chondrodysplasie métaphysaire type Spahr Syndrome trichorhinophalangien type 1 Syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille Syndrome micro Syndrome coxo-auriculaire Craniosynostose bilambdoïde et sagittale non syndromique Syndrome d'hypertélorisme associé à SPECC1L Dysplasie cranio-fronto-nasale Dysplasie cranio-métaphysaire Syndrome cranio-micromélique Syndrome de Noonan avec lentigines multiples Syndrome d'anomalies auriculaires-fente labiale ou labiopalatine-anomalies oculaires Craniosynostose type Philadelphie Syndrome de petite taille-atrophie optique-anomalie de Pelger-Huët Syndrome d'anomalies craniofaciales-surdité-anomalie de la main Syndrome de microtie-anomalies squelettiques-petite taille Nanisme primordial microcéphalique par déficit en ZNF335 Syndrome d'anomalies de l'ossification-retard psychomoteur Nanisme Mulibrey Syndrome de Curry-Jones Syndrome oto-palato-digital type 1 Syndrome oto-palato-digital type 2 Syndrome de Marshall Syndrome de McCune-Albright Syndrome 3M Syndrome de Moebius Dysplasie géléophysique Syndrome de nanisme primordial-microdontie-dents opalescentes et sans racine Dysplasie mésomélique type Langer Dysplasie mésomélique type Nievergelt Nanisme mésomélique type Reinhardt-Pfeiffer Nanisme microcéphalique ostéodysplasique primordial types I et III Nanisme microcéphalique ostéodysplasique primordial type II Nanisme microcéphalique primordial type Toriello Dysplasie ostéoglophonique Forme létale liée à l'X du syndrome des ptérygiums multiples Nanisme parastremmatique Nanisme de Lenz-Majewski Syndrome de Keipert Syndrome de Nance-Horan Neurofibromatose-syndrome de Noonan Surdité branchiogénique Syndrome de Noonan Syndrome Noonan-like avec cheveux anagènes caducs Métachondromatose Syndrome oculo-cérébro-facial type Kaufman Syndrome oculo-palato-cérébral Ostéopétrose maligne autosomique récessive Syndrome d'agammaglobulinémie-microcéphalie-craniosténose-dermatite sévère Syndrome de macrostomie-anomalies préauriculaires-ophtalmoplégie externe Ostéochondrodysplasie complexe létale Ostéogenèse imparfaite avec augmentation de la masse osseuse Syndrome cérébellofaciodentaire Dysplasie de la tête du fémur type Meyer Scaphocéphalie familiale type McGillivray Opsismodysplasia Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 8 Orofaciodigital syndrome type 10 Pfeiffer syndrome Orofaciodigital syndrome Orofaciodigital syndrome type 11 Orofaciodigital syndrome type 9 Isolated Pierre Robin syndrome Osteomesopyknosis Lethal multiple pterygium syndrome Osteopathia striata-cranial sclerosis syndrome Osteopetrosis and related disorders Autosomal dominant osteopetrosis type 1 Silver-Russell syndrome due to 7p11.2p13 microduplication Endosteal hyperostosis, Worth type Silver-Russell syndrome due to an imprinting defect of 11p15 Otofaciocervical syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Pycnodysostosis Blomstrand lethal chondrodysplasia Dysostosis, Stanescu type Rhizomelic dysplasia, Patterson-Lowry type Holmes-Gang syndrome Saethre-Chotzen syndrome Schinzel-Giedion syndrome Schwartz-Jampel syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Frontometaphyseal dysplasia Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Contractures-developmental delay-Pierre Robin syndrome Lethal osteosclerotic bone dysplasia Seckel syndrome Mesomelic dysplasia, Kantaputra type Ulna metaphyseal dysplasia syndrome Silver-Russell syndrome Short stature-wormian bones-dextrocardia syndrome Sjögren-Larsson syndrome Maffucci syndrome Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Short stature, Brussels type Short stature-valvular heart disease-characteristic facies syndrome Oculoauriculofrontonasal syndrome Pitt-Hopkins syndrome X-linked intellectual disability-plagiocephaly syndrome Craniosynostosis-intracranial calcifications syndrome Poland syndrome Orofaciodigital syndrome type 5 Aarskog-Scott syndrome Autosomal recessive multiple pterygium syndrome Intellectual disability-expressive aphasia-facial dysmorphism syndrome Baraitser-Winter cerebrofrontofacial syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Pyknoachondrogenesis Hypertrichosis-acromegaloid facial appearance syndrome Acromesomelic dysplasia, Hunter-Thompson type RAPADILINO syndrome Adams-Oliver syndrome Angel-shaped phalango-epiphyseal dysplasia Acrocapitofemoral dysplasia Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Grant syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Microphthalmia with limb anomalies Sirenomelia Autosomal recessive Stickler syndrome Spondylocamptodactyly syndrome Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Auriculoosteodysplasia Pelviscapular dysplasia Mammary-digital-nail syndrome Colobomatous microphthalmia-rhizomelic dysplasia syndrome Renpenning syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome Craniofacial conodysplasia Parkes Weber syndrome Klippel-Trénaunay syndrome Ulna hypoplasia-intellectual disability syndrome Spondylo-ocular syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Thrombocytopenia-absent radius syndrome Autosomal dominant popliteal pterygium syndrome Karsch-Neugebauer syndrome Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome Heart-hand syndrome type 3 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Heart-hand syndrome type 2 Heart defects-limb shortening syndrome Laurin-Sandrow syndrome Dislocation of the hip-dysmorphism syndrome Cerebrofaciothoracic dysplasia Holt-Oram syndrome Woodhouse-Sakati syndrome Mandibuloacral dysplasia X-linked skeletal dysplasia-intellectual disability syndrome Syndrome with limb malformations as a major feature Thin ribs-tubular bones-dysmorphism syndrome Crane-Heise syndrome Cranioectodermal dysplasia Microspherophakia-metaphyseal dysplasia syndrome Craniosynostosis-fibular aplasia syndrome Mononen-Karnes-Senac syndrome Stickler syndrome type 1 Stickler syndrome type 2 Nail-patella syndrome Terminal osseous dysplasia-pigmentary defects syndrome Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Split hand-split foot-deafness syndrome Inverse Klippel-Trénaunay syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Oculoosteocutaneous syndrome Saldino-Mainzer syndrome Oromandibular-limb hypogenesis syndrome Temple-Baraitser syndrome Osteoporosis-pseudoglioma syndrome Lateral meningocele syndrome Otoonychoperoneal syndrome Rubinstein-Taybi syndrome Lowry-Wood syndrome Fibrous dysplasia of bone Rhizomelic chondrodysplasia punctata type 1 Paralytic facial malformation Osteogenesis imperfecta Dysosteosclerosis Smith-Lemli-Opitz syndrome Pfeiffer-Palm-Teller syndrome Stickler syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phocomelia, Schinzel type Skeletal dysplasia-epilepsy-short stature syndrome Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Heart-hand syndrome, Slovenian type Steel syndrome Postaxial polydactyly-dental and vertebral anomalies syndrome Polydactyly-myopia syndrome Oliver syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome VACTERL/VATER association Acrocephalopolydactyly Acrodysplasia scoliosis Guttmacher syndrome Eng-Strom syndrome Ablepharon macrostomia syndrome Temtamy preaxial brachydactyly syndrome Acrootoocular syndrome Exostoses-anetodermia-brachydactyly type E syndrome Pterygium colli-intellectual disability-digital anomalies syndrome Flat face-microstomia-ear anomaly syndrome Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Acrocephalosyndactyly Acrocraniofacial dysostosis Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome Pyle disease Acromegaloid facial appearance syndrome Microcephalic primordial dwarfism-insulin resistance syndrome Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ADULT syndrome Hypoglossia-hypodactyly syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Cleft palate-short stature-vertebral anomalies syndrome Gingival fibromatosis-facial dysmorphism syndrome Scalp defects-postaxial polydactyly syndrome Atelosteogenesis type III Rubinstein-Taybi syndrome due to CREBBP mutations Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Heart-hand syndrome Brachydactyly-long thumb syndrome Hypochondroplasia Achondroplasia