SE-ATLAS

Cole-Carpenter-Syndrom Pfeiffer-Syndrom Typ 3 Hypochondrogenesie Kenny-Caffey-Syndrom, autosomal-dominantes Chondrodysplasie, metaphysäre, Typ Schmid Léri-Weill-Dyschondrosteose Osteochondrome, multiple Kleinwuchs, Shox-bedingter Hypertrichose mit Osteochondrodysplasie vom Typ Cantú Freeman-Sheldon-Syndrom Intelligenzminderung-Brachydaktylie-Pierre Robin-Syndrom Dysplasie, spondylometaphysäre, Typ Schmidt Dysplasie, spondyloepimetaphysäre, Typ Missouri Chondrodysplasia punctata, X-chromosomal-dominante Greig-Zephalopolysyndaktylie-Syndrom Chondroektodermale Dysplasie mit Nachtblindheit Osteopetrosis, intermediäre Multiples Pterygium-Syndrom, autosomal-dominantes Brachyolmie Kenny-Caffey-Syndrom Fibrodysplasia ossificans progressiva Anhidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom Chondrodysplasia punctata, brachytelephalangealer Typ Larsen-Syndrom Kraniosynostose - Dysmorphien - Brachydaktylie Omodysplasie Pseudoachondroplasie Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 1 Mesomeler Kleinwuchs-Gaumenspalte-Kamptodaktylie-Syndrom Dysplasie, spondyloepimetaphysäre, Typ A4 Lipodystrophie-Intelligenzminderung-Schwerhörigkeit-Syndrom Osteopathia striata - Hyperpigmentierung - weiße Stirnlocke Oro-fazio-digitales Syndrom Typ 2 Oro-fazio-digitales Syndrom Typ 4 Wiedemann-Steiner-Syndrom Brachyolmie-Amelogenesis imperfecta-Syndrom Akrorenales Syndrom Oro-fazio-digitales Syndrom Typ 3 Osteokraniostenose Dysplasie, dyssegmentale, Typ Silverman-Handmaker Silver-Russell-Syndrom durch Mikroduplikation 11p15 Prader-Willi-Syndrom durch Translokation MAGEL2-assoziiertes Prader-Willi-ähnliches Syndrom Prader-Willi-Syndrom durch Imprinting-Mutation Dysplasie, spondylometaphysäre, rezessive Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 2 Brachyolmie, autosomal-rezessive Dysostose, spondylokostale, autosomal-dominante Dysplasie, thorakomelische kurzer Tarsus - Fehlen der unteren Augenwimpern Becken-Schulter-Dysplasie Spondyloepiphysäre Dysplasie-Brachydaktylie-Sprachstörung-Syndrom Cono-spondyläre Dysplasie Femur-Fibula-Ulna-Komplex Atelosteogenesis Typ II Dysplasie, spondyloepiphysäre, Typ Reardon Dysplasie, spondyloepiphysäre, verzögerte, Typ Kohn Fraser-Syndrom Intelligenzminderung Typ Wolff Kleinwuchs-Onychodysplasie-Gesichtsdysmorphie-Hypotrichose-Syndrom Pierre-Robin-Sequenz - Oligodaktylie X-chromosomale kolobomatöse Mikrophthalmie-Mikrozephalie-Intelligenzminderung-Kleinwuchs-Syndrom Mandibuloakrale Dysplasie mit Lipodystrophie Typ A Arthrogryposis multiplex congenita Oro-fazio-digitales Syndrom Typ 13 Dysplasie, spondylo-megaepiphysäre-metaepiphysäre Letal okzipitale Enzephalozele-Skelettdysplasie-Syndrom Robinow-Syndrom, autosomal-dominantes Dysplasie, akromesomele, Typ Maroteaux Mandibuloakrale Dysplasie mit Lipodystrophie Typ B Robinow-Syndrom Antley-Bixler-Syndrom Kraniosynostose und Zahnanomalien Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan Dysplasie, spondyloepimetaphysäre, Typ Shohat Thanatophore Dysplasie Typ 2 Dysplasie, spondyloepimetaphysäre, Typ Irapa Prader-Willi-Syndrom durch paternale Deletion 15q11.13 Achondroplasie Roifman-Syndrom Dysplasie, dyssegmentale, Typ Rolland-Desbuquois Say-Field-Coldwell-Syndrom Schneckenbecken-Dysplasie Kurzrippen-Polydaktylie-Syndrom Typ Majewski Kurzrippen-Polydaktylie-Syndrom Typ Beemer-Langer Kurzrippen-Polydaktylie-Syndrom Typ Verma-Naumoff Hyperphalangie Milde spondyloepiphysäre Dysplasie durch COL2A1-Genmutation mit früh beginnender Osteoarthritis Sillence-Syndrom Dysplasie, spondyloepiphysäre, Typ Kimberley Dysplasie, spondyloepimetaphysäre, Typ PAPSS2 Dysplasie, spondyloepiphysäre verzögerte Dysplasie, epiphysäre multiple, durch Kollagen 9-Anomalie Achondrogenesie Typ 2 Achondrogenesie Typ 1A Achondrogenesie Typ 1B Brachyolmie Typ 2 Brachyolmie Typ 3 Dysplasie, epiphysäre multiple, Typ Beighton Dysplasie, epiphysäre multiple, Typ 4 Dysplasie, epiphysäre multiple, Typ 1 Dysplasie, epiphysäre multiple, Typ 5 Dysplasie, spondylometaphysäre, Typ Kozlowski Dysplasie, spondylometaphysäre, Typ Sedaghatian Arthropathie, progressive pseudorheumatoide, der Kindheit Dysplasie, epiphysäre multiple, Typ Al-Gazali Dysplasie, epiphysäre multiple, mit schwerer proximaler Femur-Dysplasie Dysplasie, epiphysäre multiple, mit Miniepiphysen Dysplasie, anauxetische 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 Acromelic 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 Hypochondroplasia 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 OBSOLETE: Peripheral dysostosis Dysplasia epiphysealis hemimelica Fuhrmann syndrome Schimke immuno-osseous dysplasia Bone dysplasia, lethal Holmgren type Spondyloenchondrodysplasia Spondyloperipheral dysplasia-short ulna syndrome Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Thanatophoric dysplasia type 1 Spondyloepiphyseal dysplasia, MacDermot type Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia congenita Triphalangeal thumbs-brachyectrodactyly syndrome Triphalangeal thumb-polysyndactyly syndrome Adducted thumbs-arthrogryposis syndrome, Christian type Epiphyseal stippling-osteoclastic hyperplasia syndrome Acheiropodia Achondrogenesis Acropectorovertebral dysplasia Gollop-Wolfgang complex Acromicric dysplasia Fibrochondrogenesis Orofaciodigital syndrome type 14 Growth deficiency-brachydactyly-dysmorphism syndrome Orofaciodigital syndrome type 12 Metaphyseal anadysplasia Muenke syndrome Rhizomelic syndrome, Urbach type Gorlin-Chaudhry-Moss syndrome Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ankyloblepharon filiforme adnatum-cleft palate syndrome Acromesomelic dysplasia, Grebe type Albers-Schönberg osteopetrosis Hallermann-Streiff syndrome Hallermann-Streiff-like syndrome Hunter-McAlpine syndrome Cerebrooculonasal syndrome Pfeiffer syndrome type 2 Pfeiffer syndrome type 1 Diaphanospondylodysostosis Apert syndrome Aphalangy-syndactyly-microcephaly syndrome SHORT syndrome Constriction rings syndrome Polyostotic fibrous dysplasia Hypospadias-hypertelorism-coloboma and deafness syndrome Multiple epiphyseal dysplasia, Lowry type Xeroderma pigmentosum-Cockayne syndrome complex Stüve-Wiedemann syndrome Campomelic dysplasia Autosomal recessive Kenny-Caffey syndrome Congenital unilateral hypoplasia of depressor anguli oris Autosomal recessive omodysplasia Autosomal dominant omodysplasia Symptomatic form of Coffin-Lowry syndrome in female carriers Microcephalic primordial dwarfism Deafness-ear malformation-facial palsy syndrome Multiple synostoses syndrome Hypertelorism-microtia-facial clefting syndrome Atelosteogenesis type I Multiple pterygium syndrome Deafness-craniofacial syndrome Platyspondylic dysplasia, Torrance type Cartilage-hair hypoplasia Rhizomelic chondrodysplasia punctata Smith-McCort dysplasia Mesomelic dysplasia, Savarirayan type Alazami syndrome IMAGe syndrome Microcephalic osteodysplastic dysplasia, Saul-Wilson type Pseudodiastrophic dysplasia Infantile osteopetrosis with neuroaxonal dysplasia 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 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Metachondromatosis 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 Oculocerebrofacial syndrome, Kaufman type Osteogenesis imperfecta 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 Prader-Willi-Syndrom Endostale Hyperostose, Typ Worth Silver-Russell-Syndrom durch Imprintingdefekt von 11p15 Oto-fazio-zervikales Syndrom Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11 Dysosteosklerose SIM1-assoziiertes Prader-Willi-ähnliches Syndrom Pyknodysostose Prader-Willi-ähnliches Syndrom Chondrodysplasie Typ Blomstrand Dysostose Typ Stanescu Dysplasie, rhizomele, Typ Patterson-Lowry Holmes-Gang-Syndrom Saethre-Chotzen-Syndrom Schinzel-Giedion-Syndrom Schwartz-Jampel-Syndrom Epiphysäre Dysplasie mit Hörverlust und Dysmorphien Dysplasie, fronto-metaphysäre Mandibulofaziale Dysostose - Makroblepharon - Makrostomie Kontrakturen-Entwicklungsverzögerung-Pierre Robin-Syndrom Knochendysplasie, osteosklerotische, letale Form Seckel-Syndrom Dysplasie, mesomele, Typ Kantaputra Ulna-Dysplasie, metaphysäre Silver-Russell-Syndrom Kleinwuchs-Wormsche Knochen-Dextrokardie-Syndrom Sjögren-Larsson-Syndrom Maffucci-Syndrom Kleinwuchs-Schwerhörigkeit-neutrophile Funktionsstörung-Dysmorphien-Syndrom Kleinwuchs Typ Brüssel Kleinwuchs - Herzklappenfehler - charakteristisches Gesicht Okulo-aurikulo-fronto-nasales Syndrom Pitt-Hopkins-Syndrom X-chromosomale Intelligenzminderung-Plagiozephalie-Syndrom Kraniosynostose-intrakranielle Kalzifizierung-Syndrom Poland-Syndrom Oro-fazio-digitales Syndrom Typ 5 Aarskog-Scott-Syndrom Multiples Pterygium-Syndrom, autosomal-rezessives Intelligenzminderung-expressive Aphasie-Gesichtsdysmorphien-Syndrom Baraitser-Winter zerebro-fronto-faziales Syndrom Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 Pyknoachondrogenesie Syndrom des akromegaloiden Gesichtes mit Hypertrichose Dysplasie, akromesomele, Typ Hunter-Thompson RAPADILINO-Syndrom Adams-Oliver-Syndrom Dysplasie, engelförmige phalango-epiphysäre Dysplasie, akro-capito-femorale Rubinstein-Taybi-Syndrom durch Mikrodeletion 16p13.3 Wirbelfusion, hintere lumbo-sakrale - Blepharoptose Grant-Syndrom Steifer Daumen-Brachydaktylie-Intelligenzminderung-Syndrom Mikrophthalmie mit Gliedmaßenanomalien Sirenomelie Stickler-Syndrom, autosomal-rezessives Spondylo-Kamptodaktylie-Syndrom Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz Aurikulo-Osteo-Dysplasie Dysplasie, pelvi-skapuläre Mammary-digital-nail-Syndrom Kolobomatöse Mikrophtalmie-rhizomele Dysplasie-Syndrom Renpenning-Syndrom Kamptodaktylie - Hochwuchs - Skoliose - Hörverlust Kraniofaziale Konodysplasie Parkes-Weber-Syndrom Klippel-Trénaunay-Syndrom Ulnahypoplasie-Intelligenzminderung-Syndrom Spondylo-okuläres Syndrom Radiushypoplasie - triphalangeale Daumen - Hypospadie - Progenie - maxilläres Diastema Thrombozytopenie-Radiusaplasie-Syndrom Knochendysplasie, fibröse Popliteales Pterygium-Syndrom, autosomal-dominantes Karsch-Neugebauer-Syndrom Kamptodaktylie-fibröse Gewebehyperplasie-Skelettdysplasie-Syndrom Herz-Hand-Syndrom Typ 3 Hyperphalangie der Finger-Zehenanomalie-schweres Pectus excavatum-Syndrom Herz-Hand-Syndrom Typ 2 Herzfehler-Extremitätenverkürzung-Syndrom Laurin-Sandrow-Syndrom Hüftdislokation-Dysmorphie-Syndrom Dysplasie, zerebro-fazio-thorakale Holt-Oram-Syndrom Woodhouse-Sakati-Syndrom Dysplasie, mandibulo-akrale X-chromosomale Skelettdysplasie-Intelligenzminderung-Syndrom Syndrome mit Extremitätenfehlbildung als Hauptmerkmal Dünne Rippen und Röhrenknochen-Dysmorphie-Syndrom Crane-Heise-Syndrom Dysplasie, kranioektodermale Mikrosphärophakie - metaphysäre Dysplasie Kraniosynostose -Fibula--Syndrom Mononen-Karnes-Senac-Syndrom Chondrodysplasia punctata, rhizomele, Typ 1 Stickler-Syndrom Typ 1 Stickler-Syndrom Typ 2 Nagel-Patella-Syndrom Terminale Knochendysplasie - Pigmentstörungen Gesichtsfehlbildung, paralytische Sakrale Agenesie-abnormale Verknöcherung der Wirbelkörper-persistierender notochordaler Kanal-Syndrom Spalthand - Spaltfuß - Schwerhörigkeit Inverses Klippel-Trenaunay-Syndrom Kleeblattschädel - asphyxierende Thoraxdysplasie Radioulnar-Synostose - amegakaryozytische Thrombozytopenie Okulo-osteo-kutanes Syndrom Saldino-Mainzer-Syndrom Syndrom mit oro-mandibulärer und Gliedmaßen-Hypogenesis Temple-Baraitser-Syndrom Osteoporose-Pseudoglioma-Syndrom Syndrom der lateralen Meningozele Oto-onycho-peroneales Syndrom Rubinstein-Taybi-Syndrom Lowry-Wood-Syndrom Smith-Lemli-Opitz-Syndrom Pfeiffer-Palm-Teller-Syndrom Stickler-Syndrom Phokomelie - Ektrodaktylie - Schwerhörigkeit - Sinusarrhythmie Phokomelie Typ Schinzel Skelettdysplasie - Epilepsie - Kleinwuchs Herz-Hand-Syndrom Persistierender Ducuts arteriosus-bikuspide Aortenklappe-Handanomalien-Syndrom Herz-Hand-Syndrom, slowenischer Typ Steel-Syndrom Polydaktylie, postaxiale - dentale und vertebrale Anomalien Polydaktylie - Myopie Oliver-Syndrom Präaxiale Polydaktylie-Kolobom-Intelligenzminderung-Syndrom VACTERL/VATER-Assoziation Akrozephalopolydaktylie Brachydaktylie mit langem Daumen Akrodysplasie - Skoliose Guttmacher-Syndrom Eng-Strom-Syndrom Ablepharon-Makrostomie-Syndrom Temtamy präaxiales Brachydaktylie-Syndrom Akro-oto-okuläres Syndrom Exostosen-Anetodermie-Brachydaktylie Typ E-Syndrom Pterygium colli - Intelligenzminderung - Fingeranomalien Flaches Gesicht-Mikrostomie-Ohranomalie-Syndrom Gesichtsdysmorphie-Anorexie-Kachexie-Augen- und Hautanomalien-Syndrom THOC6-assoziierte Entwicklungsverzögerung mit Mikrozephalie und Gesichtsdysmorphien Akrozephalosyndaktylie Dysostose, akro-kranio-faziale Intrauterine Wachstumsretardierung-Kleinwuchs-im frühen Erwachsenenalter beginnender Diabetes-Syndrom Aphonie-Schwerhörigkeit-Retinadystrophie-Bifid Hallux-Intelligenzminderung-Syndrom Polydaktylie, spiegelbildliche - vertebrale Segmentierungsdefekte - Extremitätenanomalien Pyle-Krankheit Syndrom der akromegalen Gesichtszüge Mikrozephaler primordialer Kleinwuchs-Insulinresistenz-Syndrom Syndaktylie - Kamptodaktylie und Klinodaktylie des fünften Fingers - bifide Zehen ADULT-Syndrom Hypoglossie-Hypodaktylie-Syndrom Verzögerte Sprachentwicklung-Gesichtsasymmetrie-Strabismus-Ohrmuscheldefekte-Syndrom Gaumenspalte - Kleinwuchs - Fehlbildungen der Wirbel Gingivale Fibromatose-Gesichtsdysmorphie-Syndrom Skalpdefekte - postaxiale Polydaktylie Atelosteogenesis Typ III Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation Osteopenie-Myopie-Hörverlust-Intelligenzminderung-Gesichtsdysmorphien-Syndrom