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 Spondyloepimetaphysäre Dysplasie mit kurzen Extremitäten und anormaler Kalzifizierung Chondrodysplasia punctata, nicht-rhizomeler Typ Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen, leptodaktyler Typ Astley-Kendall-Dysplasie Dysostose, thorakopelvine Dysplasie, spondylometaphysäre Chondrodysplasia punctata Hypoplastische Tibia-postaxiale Polydaktylie-Syndrom Ellis Van Creveld-Syndrom CHST3-assoziierte Skelettdysplasie Kamptobrachydaktylie Klippel-Feil-Syndrom, isoliertes Kniest-ähnliche Dysplasie, letale Dysplasie, spondyloepiphysäre, Typ Stanescu Dysplasie, spondyloepimetaphysäre, Typ Handigodu Dysplasie, diaphysäre gefleckte Dysplasie, spondyloepiphysäre, Typ Maroteaux Larsen-ähnliches Syndrom - Knochendysplasie - Kleinwuchs Larsen-ähnliches Syndrom, letale Form Dysplasie, spondyloepimetaphysäre, Typ Isidor-Toutain Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak Tarsal-Karpal-Fusions-Syndrom Greenberg-Dysplasie Oto-spondylo-megaepiphysäre Dysplasie, autosomal-rezessive Cleido-rhizomeles Syndrom Melhem-Fahl-Syndrom Dysplasie, spondyloepiphysäre, mit metatarsaler Verkürzung Jeune-Syndrom Kurzrippen-Polydaktylie-Syndrom NEK9-assoziierte letale Skelettdysplasie Larsen-ähnliches Syndrom, B3GAT3 Typ Chondrodysplasia punctata Typ Toriello Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom Dysplasie, spondyloepimetaphysäre, mit gestörter Zahnentwicklung NANS-CDG Chondrodysplasia punctata, rhizomele, Typ 2 Chondrodysplasia punctata, rhizomele, Typ 3 Kleinwuchs mit Brachydaktylie vom Typ Mseleni Dysplasie, spondylometaphysäre, autosomal-rezessive, Typ Mégarbané Metatrope Dysplasie Thanatophore Dysplasie Dysplasie, spondylometaphysäre, Typ Golden Dysplasie, spondyloepimetaphysäre, axiale Form Spondyloepimetaphysäre Dysplasie-gebogene Unterarme-Gesichtsdysmorphien-Syndrom Dysplasie, diastrophe Fibuläre Dimelie-Diplopodie-Syndrom Dysplasia epiphysealis hemimelica Fuhrmann-Syndrom Knochendysplasie, immuno-ossäre, Typ Schimke Knochendysplasie, letale, Typ Holmgren Spondyloenchondrodysplasie Spondyloperiphere Dysplasie mit kurzer Ulna Spondyloepiphysäre Dysplasie-Kraniosynostose-Gaumenspalte Katarakt-Intelligenzminderung-Syndrom Thanatophore Dysplasie Typ 1 Dysplasie, spondyloepiphysäre, Typ MacDermot Dysplasie, spondyloepimetaphysäre, Typ Aggrecan Dysplasie, spondyloepiphysäre, kongenitaler Typ Triphalangeale Daumen-Brachyektrodaktylie-Syndrom Triphalangeale Daumen-Polysyndaktylie-Syndrom Adduzierte Daumen-Arthrogrypose-Syndrom Typ Christian Epiphysäre Tüpfelung-osteoklastische Hyperplasie-Syndrom Acheiropodie, isolierte Achondrogenesie Dysplasie, akro-pectoro-vertebrale Gollop-Wolfgang-Komplex Dysplasie, akromikrische Fibrochondrogenesie Oro-fazio-digitales Syndrom Typ 14 Wachstumsstörungen - Brachydaktylie - Dysmorphien Oro-fazio-digitales Syndrom Typ 12 Anadysplasie, metaphysäre Muenke-Syndrom Rhizomeles Syndrom Typ Urbach Gorlin-Chaudhry-Moss-Syndrom Ptosis mit Bewegungseinschränkung des Auges und Fehlen des Tränenpünktchens Ankyloblepharon filiformis-Gaumenspalte-Syndrom Dysplasie, akromesomele, Typ Grebe Osteopetrosis Albers-Schönberg Hallermann-Streiff-Syndrom Hallermann-Streiff-ähnliches Syndrom Hunter-McAlpine -Syndrom Zerebro-okulo-nasales Syndrom Pfeiffer-Syndrom Typ 2 Pfeiffer-Syndrom Typ 1 Diaphanospondylodysostose Apert-Syndrom Aphalangie-Syndaktylie-Mikrozephalie-Syndrom SHORT-Syndrom Schnürring-Syndrom Knochendysplasie, fibröse polyostotische Hypospadie - Hypertelorismus - Kolobom - Schwerhörigkeit Dysplasie, epiphysäre multiple, Typ Lowry Xeroderma pigmentosum/Cockayne-Syndrom-Komplex Dysplasie, akromele Dysostose, periphere Stüve-Wiedemann-Syndrom Dysplasie, kampomele Kenny-Caffey-Syndrom, autosomal-rezessives Kongenitale unilaterale Hypoplasie des M. depressor anguli oris Omodysplasie, autosomal-rezessive Form Omodysplasie, autosomal-dominante Form Symptomale Form des Coffin-Lowry-Syndroms bei weiblichen Anlageträgerinnen Kleinwuchs, mikrozephaler primordialer Schwerhörigkeit-Ohrfehlbildung-Fazialisparese-Syndrom Multiple Synostosen Hypertelorismus - Mikrotie - Gesichtsspalten Atelosteogenesis Typ I Multiples Pterygium-Syndrom Syndrom der Taubheit mit kranio-fazialer Dysmorphie Dysplasie, platyspondylitische, Typ Torrance Knorpel-Haar-Hypoplasie Chondrodysplasia punctata, rhizomeler Typ Smith-McCort-Dysplasie Dysplasie, mesomele, Typ Savarirayan Alazami-Syndrom IMAGe-Syndrom Dysplasie, mikrozephale osteodysplastische, Typ Saul-Wilson Dysplasie, pseudodiastrophische Osteopetrose mit neuroaxonaler Dysplasie, infantile Form Cenani-Lenz syndrome Craniofaciofrontodigital syndrome Cockayne syndrome Microcephalic primordial dwarfism, Dauber type Coffin-Lowry syndrome Craniometadiaphyseal dysplasia, wormian bone type Metaphyseal dysplasia, Braun-Tinschert type Singleton-Merten dysplasia Cornelia de Lange syndrome FOXP1 Syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Spondylocarpotarsal synostosis Genochondromatosis type 1 Branchiootic syndrome Dysspondyloenchondromatosis Barber-Say syndrome Ischiovertebral syndrome Bartsocas-Papas syndrome Metaphyseal acroscyphodysplasia Carpenter syndrome Blepharonasofacial malformation syndrome Isolated osteopoikilosis Ascher syndrome Dubowitz syndrome Dyggve-Melchior-Clausen disease Boomerang dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple metaphyseal dysplasia Multiple epiphyseal dysplasia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Goodman syndrome Mandibulofacial dysostosis-microcephaly syndrome Brachymorphism-onychodysplasia-dysphalangism syndrome Juberg-Hayward syndrome Silver-Russell syndrome due to a point mutation Kabuki syndrome Sanjad-Sakati syndrome Buschke-Ollendorff syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome Trigonocephaly-broad thumbs syndrome Ollier disease Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-short stature-developmental delay syndrome Angioosteohypertrophic syndrome Metaphyseal chondrodysplasia, Jansen type Camptodactyly-joint contractures-facial skeletal defects syndrome Camptodactyly syndrome, Guadalajara type 2 Camptodactyly syndrome, Guadalajara type 1 Camurati-Engelmann disease Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Carey-Fineman-Ziter syndrome Isolated hereditary congenital facial paralysis Intellectual disability-facial dysmorphism-hand anomalies syndrome Velo-facial-skeletal syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Charlie M syndrome Macrosomia-microphthalmia-cleft palate syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Chondrodysplasia-difference of sex development syndrome Van den Ende-Gupta syndrome Marden-Walker syndrome Melnick-Needles syndrome COFS syndrome Coloboma of macula-brachydactyly type B syndrome Mesomelia-synostoses syndrome Upper limb mesomelic dysplasia Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Autosomal recessive Robinow syndrome Kniest dysplasia Craniodigital-intellectual disability syndrome Weill-Marchesani syndrome Odontochondrodysplasia Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Patterson-Stevenson-Fontaine syndrome Lethal recessive chondrodysplasia Desbuquois syndrome Coffin-Siris syndrome FATCO syndrome Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Metaphyseal chondrodysplasia, Spahr type Trichorhinophalangeal syndrome type 1 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Micro syndrome Coxoauricular syndrome Non-syndromic bilambdoid and sagittal craniosynostosis SPECC1L-related hypertelorism syndrome Craniofrontonasal dysplasia Craniometaphyseal dysplasia Craniomicromelic syndrome Noonan syndrome with multiple lentigines Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome Craniosynostosis, Philadelphia type Short stature-optic atrophy-Pelger-Huët anomaly syndrome Craniofacial-deafness-hand syndrome Ear-patella-short stature syndrome Microcephalic primordial dwarfism due to ZNF335 deficiency Ossification anomalies-psychomotor developmental delay syndrome Mulibrey nanism Curry-Jones syndrome Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Marshall syndrome McCune-Albright syndrome 3M syndrome Moebius syndrome Geleophysic dysplasia Primordial short stature-microdontia-opalescent and rootless teeth syndrome Langer mesomelic dysplasia Mesomelic dysplasia, Nievergelt type Mesomelic dwarfism, Reinhardt-Pfeiffer type Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism type II Microcephalic primordial dwarfism, Toriello type Osteoglosphonic dysplasia X-linked lethal multiple pterygium syndrome Parastremmatic dwarfism Lenz-Majewski hyperostotic dwarfism Keipert syndrome Nance-Horan syndrome Neurofibromatosis-Noonan syndrome Branchiogenic deafness syndrome Noonan syndrome Noonan syndrome-like disorder with loose anagen hair Metachondromatosis Oculocerebrofacial syndrome, Kaufman type Oculo-palato-cerebral syndrome Autosomal recessive malignant osteopetrosis Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Complex lethal osteochondrodysplasia High bone mass osteogenesis imperfecta Cerebellar-facial-dental syndrome Dysplasia of head of femur, Meyer type Familial scaphocephaly syndrome, McGillivray type 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