SE-ATLAS

Syndrome de Cole-Carpenter Syndrome de Pfeiffer type 3 Hypochondrogenèse Syndrome de Kenny-Caffey autosomique dominant Chondrodysplasie métaphysaire type Schmid Dyschondrostéose de Léri-Weill Petite taille associée à SHOX Syndrome de Cantú Maladie des exostoses multiples Syndrome de Freeman-Sheldon Syndrome de Pierre Robin-déficience intellectuelle-brachydactylie 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 Dysplasie, spondyloepimetaphysäre, Typ Strudwick Dysplasie, spondyloepimetaphysäre, X-chromosomale Reunion Insel-Variante des Larsen-Syndroms Schwere Achondroplasie-Entwicklungsverzögerung-Acanthosis nigricans-Syndrom SPONASTRIME-Dysplasie Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Symphalangismus mit multiplen Anomalien der Hände und Füße Spondylometaphysäre Dysplasie mit Zapfen-Stäbchendystrophie 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 Dysplasie, oto-spondylo-megaepiphysäre Cleido-rhizomeles Syndrom Melhem-Fahl-Syndrom Dysplasie, spondyloepiphysäre, mit metatarsaler Verkürzung Jeune-Syndrom Kurzrippen-Polydaktylie-Syndrome NEK9-assoziierte letale Skelettdysplasie Larsen-ähnliches Syndrom, B3GAT3 Typ Chondrodysplasia punctata Typ Toriello Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom Dysplasie, spondyloepimetaphysäre, mit gestörter Zahnentwicklung Dysplasie, spondyloepimetaphysäre, Typ Geneviève 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 Syndrome de dimélie fibulaire-diplopodie 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 Dubowitz-Syndrom Dyggve-Melchior-Clausen-Syndrom Boomerang-Dysplasie Dysplasie, epiphysäre multiple, mit Pseudoachondroplasie Dysplasie, metaphysäre Dysplasie, epiphysäre multiple Spondyloepiphysäre und spondyloepimetaphysäre Dysplasie Goodman-Syndrom Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom Brachymorphie-Onychodysplasie-Dysphalangie-Syndrom Juberg-Hayward-Syndrom Silver-Russell-Syndrom durch Punktmutation Kabuki-Syndrom Sanjad-Sakati-Syndrom Buschke-Ollendorff-Syndrom Keratosis follicularis-Kleinwuchs-Hirnatrophie-Syndrom Trigonozephalie - breite Daumen Ollier-Krankheit Trigonozephalie-bifide Nase-akrale Anomalien-Syndrom Trigonozephalie - Kleinwuchs - Entwicklungsverzögerung Angio-osteo-hypertrophisches Syndrom Chondrodysplasie, metaphysäre, Typ Jansen Kamptodaktylie-Gelenkkontrakturen-faziale Skelettdefekte-Syndrom Kamptodaktylie Guadalajara Typ 2 Kamptodaktylie Guadalajara Typ 1 Camurati-Engelmann-Syndrom Kleinwuchs-Hörkanalatresie-Mandibuläre Hypoplasie-Skelettanomalien-Syndrom Carey-Fineman-Ziter-Syndrom Fazialisparese, hereditäre isolierte kongenitale Intelligenzminderung-Gesichtsdysmorphien-Handanomalien-Syndrom Velo-fazio-skelettales Syndrom Kongenitale hereditäre Fazialisparese mit variablem Hörverlust Gesichtsdysmorphien-Linsendislokation-vordere Segmentanomalien-spontane Sickerkissen-Syndrom Charlie M-Syndrom Makrosomie - Mikrophthalmie - Gaumenspalte Mikrozephalie-Kleinwuchs-Intelligenzminderung-Gesichtsdysmorphie-Syndrom Chondrodysplasie-Störung der Geschlechtsentwicklung-Syndrom Van den Ende-Gupta-Syndrom Marden-Walker-Syndrom Melnick-Needles-Syndrom COFS-Syndrom Makula-Kolobom - Brachydaktylie Typ B Mesomelie-Synostosen-Syndrom Dysplasie, mesomele, der oberen Extremität Metaphysäre Dysostose-Intelligenzminderung-Schallleitungsschwerhörigkeit-Syndrom Dysplasie, metaphysäre - Maxillahypoplasie - Brachydaktylie Klippel-Feil-Anomalie-Myopathie-Gesichtsdysmorphie-Syndrom Robinow-Syndrom, autosomal-rezessives Kniest-Dysplasie Kraniodigitales Syndrom mit Intelligenzminderung Weill-Marchesani-Syndrom Goldblatt-Syndrom Skelettdysplasie mit Wormschen Knochen-multiplen Frakturen-Dentinogenesis imperfecta-Syndrom Spalthand mit mandibulofazialer Dysostose Chondrodysplasie, letale, rezessive Desbuquois-Syndrom Coffin-Siris-Syndrom FATCO-Syndrom Noonan-ähnliches Syndrom mit juveniler myelomonozytischer Leukämie Chondrodysplasie, metaphysäre, Typ Spahr Tricho-rhino-phalangeales Syndrom Typ 1 Gesichtsdysmorphie-Immundefekt-Livedo-Kleinwuchs-Syndrom Mikro-Syndrom Coxo-aurikuläres Syndrom Bilaterale Lambdoid- und Sagittalsynostose, nicht-syndromale SPECC1L-assoziiertes Hypertelorismus-Syndrom Dysplasie, kranio-fronto-nasale Dysplasie, kranio-metaphysäre Kranio-mikromeles Syndrom Noonan-Syndrom mit multiplen Lentigines Ohrenanomalien - Lippen-Kiefer-Gaumenspalte - Augenanomalien Kraniosynostose Typ Philadelphia Kleinwuchs-Optikusatrophie-Pelger-Huët-Anomalie-Syndrom Schädel-Gesicht-Schwerhörigkeit-Hand-Syndrom Ohr-Patella-Kleinwuchs-Syndrom Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel Ossifikationsstörung - psychomotorische Entwicklungsverzögerung Mulibrey-Kleinwuchs Curry-Jones-Syndrom Oto-palato-digitales Syndrom Typ 1 Oto-palato-digitales Syndrom Typ 2 Marshall-Syndrom McCune-Albright-Syndrom 3M-Syndrom Moebius-Syndrom Kleinwuchs, geleophysischer Primordialer Kleinwuchs - Mikrodontie - opaleszierende und wurzellose Zähne Kleinwuchs, mesomeler, Typ Langer Dysplasie, mesomele, Typ Nievergelt Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ I und III Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II Kleinwuchs, mikrozephaler primordialer, Typ Toriello Dysplasie, osteoglophone Multiples Pterygium-Syndrom, letales, X-chromosomales Kleinwuchs, parastrematischer Kleinwuchs, hyperostotischer, Typ Lenz-Majewski Keipert-Syndrom Nance-Horan-Syndrom Neurofibromatose-Noonan-Syndrom Branchiogene Schwerhörigkeit-Syndrom Noonan-Syndrom Noonan-ähnliches Syndrom mit losem Anagenhaar Metachondromatose 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