Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Part of

Sub-types of Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

• Fanconi anemia 29 trials · 42 incl. sub-types
  22 sub-types

  • Fanconi anemia complementation group D1 6 trials
  • Fanconi anemia complementation group A 4 trials
  • Fanconi anemia complementation group E 4 trials
  • Fanconi anemia complementation group N 2 trials
  • Fanconi anemia, complementation group S 2 trials
  • Fanconi anemia complementation group B 0 trials
  • Fanconi anemia complementation group C 0 trials
  • Fanconi anemia complementation group D2 0 trials
  • Fanconi anemia complementation group F 0 trials
  • Fanconi anemia complementation group G 0 trials
  • Fanconi anemia complementation group I 0 trials
  • Fanconi anemia complementation group J 0 trials
  • Fanconi anemia complementation group L 0 trials
  • Fanconi anemia complementation group O 0 trials
  • Fanconi anemia complementation group P 0 trials
  • Fanconi anemia complementation group Q 0 trials
  • Fanconi anemia complementation group R 0 trials
  • Fanconi anemia complementation group T 0 trials
  • Fanconi anemia complementation group U 0 trials
  • Fanconi anemia complementation group V 0 trials
  • Fanconi anemia, complementation group W 0 trials
  • Fanconi anemia, complementation group 10 0 trials
• CHILD syndrome 37 trials
• Autosomal dominant prognathism 26 trials
• Alagille syndrome 15 trials
  3 sub-types

  • Alagille syndrome due to 20p12 microdeletion 0 trials
  • Alagille syndrome due to a JAG1 point mutation 0 trials
  • Alagille syndrome due to a NOTCH2 point mutation 0 trials
• Van der Woude syndrome 8 trials
  2 sub-types

  • Van der Woude syndrome 1 0 trials
  • Van der Woude syndrome 2 0 trials
• Binder syndrome 7 trials
• Matthew-Wood syndrome 5 trials
• Pelvis syndrome 5 trials
• Oculoauriculovertebral spectrum with radial defects 0 trials · 5 incl. sub-types
  1 sub-type

  • Craniofacial microsomia 5 trials Sub-types →
• Noonan syndrome with multiple lentigines 3 trials
  3 sub-types

  • LEOPARD syndrome 1 0 trials
  • LEOPARD syndrome 2 0 trials
  • LEOPARD syndrome 3 0 trials
• Lethal congenital contracture syndrome 2 3 trials
• Axenfeld-Rieger syndrome 1 trial
  3 sub-types

  • Axenfeld-Rieger syndrome type 3 1 trial
  • Axenfeld-Rieger syndrome type 1 0 trials
  • Axenfeld-Rieger syndrome type 2 0 trials
• BNAR syndrome 1 trial
• Freeman-Sheldon syndrome 1 trial
  1 sub-type

  • Whistling face syndrome, recessive form 0 trials
• Nijmegen breakage syndrome 1 trial
• Waardenburg syndrome 1 trial
  5 sub-types

  • Waardenburg syndrome type 1 1 trial
  • Waardenburg syndrome type 2 1 trial Sub-types →
  • Waardenburg syndrome type 3 0 trials
  • Waardenburg syndrome, IIa 2F 0 trials
  • Waardenburg-Shah syndrome 0 trials Sub-types →
• Arhinia, choanal atresia, and microphthalmia 1 trial
• Cherubism 1 trial
  1 sub-type

  • Al Gazali Khidr Prem Chandran syndrome 0 trials
• Postaxial acrofacial dysostosis 1 trial
• Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 1 trial
• 3-M syndrome 0 trials
  3 sub-types

  • 3M syndrome 1 0 trials
  • 3M syndrome 2 0 trials
  • 3M syndrome 3 0 trials
• 49,XYYYY syndrome 0 trials
• 8q22.1 microdeletion syndrome 0 trials
• Aase-Smith syndrome 0 trials
• Abruzzo-Erickson syndrome 0 trials
• Ackerman syndrome 0 trials
• Ascher syndrome 0 trials
• Barber-Say syndrome 0 trials
• Beare-Stevenson cutis gyrata syndrome 0 trials
• Beemer-Ertbruggen syndrome 0 trials
• Bencze syndrome 0 trials
• Braddock syndrome 0 trials
• CODAS syndrome 0 trials
• Charlie M syndrome 0 trials
• Cole-Carpenter syndrome 0 trials
  2 sub-types

  • Cole-Carpenter syndrome 1 0 trials
  • Cole-Carpenter syndrome 2 0 trials
• Cooper-Jabs syndrome 0 trials
• Cyprus facial-neuromusculoskeletal syndrome 0 trials
• Czeizel-Losonci syndrome 0 trials
• Dahlberg-Borer-Newcomer syndrome 0 trials
• Donohue syndrome 0 trials
• Fibulo-ulnar hypoplasia-renal anomalies syndrome 0 trials
• Fontaine progeroid syndrome 0 trials
• Fraser syndrome 0 trials
  3 sub-types

  • Fraser syndrome 1 0 trials
  • Fraser syndrome 2 0 trials
  • Fraser syndrome 3 0 trials
• Frias syndrome 0 trials
• Gordon syndrome 0 trials
• Greig cephalopolysyndactyly-contiguous gene syndrome 0 trials
• Hirschsprung disease-hearing loss-polydactyly syndrome 0 trials
• Hirschsprung disease-type D brachydactyly syndrome 0 trials
• Holt-Oram syndrome 0 trials
  1 sub-type

  • Heart-hand syndrome type 3 0 trials
• Holzgreve-Wagner-Rehder syndrome 0 trials
• Juberg-Hayward syndrome 0 trials
• Keipert syndrome 0 trials
• LADD syndrome 0 trials
  3 sub-types

  • LADD syndrome 1 0 trials
  • Lacrimoauriculodentodigital syndrome 2 0 trials
  • Lacrimoauriculodentodigital syndrome 3 0 trials
• Marshall syndrome 0 trials
• McKusick-Kaufman syndrome 0 trials
• Nager acrofacial dysostosis 0 trials
• Nijmegen breakage syndrome-like disorder 0 trials
• PAGOD syndrome 0 trials
• PARC syndrome 0 trials
• PHAVER syndrome 0 trials
• Richieri Costa-Pereira syndrome 0 trials
• Richieri Costa-da Silva syndrome 0 trials
• SHORT syndrome 0 trials
• Schilbach-Rott syndrome 0 trials
• Thomas syndrome 0 trials
• Townes-Brocks syndrome 0 trials
  2 sub-types

  • Townes-Brocks syndrome 1 0 trials
  • Townes-Brocks syndrome 2 0 trials
• Treacher-Collins syndrome 0 trials
  4 sub-types

  • Treacher Collins syndrome 1 0 trials
  • Treacher Collins syndrome 2 0 trials
  • Treacher Collins syndrome 3 0 trials
  • Treacher Collins syndrome 4 0 trials
• Verloove Vanhorick-Brubakk syndrome 0 trials
• Vici syndrome 0 trials
• Warsaw breakage syndrome 0 trials
• Weill-Marchesani syndrome 0 trials
  4 sub-types

  • Weill-Marchesani 4 syndrome, recessive 0 trials
  • Weill-Marchesani syndrome 1 0 trials
  • Weill-Marchesani syndrome 2, dominant 0 trials
  • Weill-Marchesani syndrome 3 0 trials
• Absent tibia-polydactyly-arachnoid cyst syndrome 0 trials
• Acro-renal-mandibular syndrome 0 trials
• Acrocraniofacial dysostosis 0 trials
• Acrofacial dysostosis, Weyers type 0 trials
• Acrofrontofacionasal dysostosis 2 0 trials
• Acrorenal syndrome 0 trials
  1 sub-type

  • Acrorenal syndrome, autosomal recessive 0 trials
• Alar cartilages hypoplasia-coloboma-telecanthus syndrome 0 trials
• Anonychia-microcephaly syndrome 0 trials
• Anophthalmia plus syndrome 0 trials
• Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0 trials
• Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
• Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 0 trials
• Autosomal recessive faciodigitogenital syndrome 0 trials
• Autosomal recessive multiple pterygium syndrome 0 trials
  1 sub-type

  • Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 trials
• Blepharocheilodontic syndrome 0 trials
  3 sub-types

  • Martinez Monasterio Pinheiro syndrome 0 trials
  • Blepharocheilodontic syndrome 1 0 trials
  • Blepharocheilodontic syndrome 2 0 trials
• Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0 trials
• Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
• Branchio-oto-renal syndrome 0 trials
  2 sub-types

  • Branchiootorenal syndrome 1 0 trials
  • Branchiootorenal syndrome 2 0 trials
• Branchiooculofacial syndrome 0 trials
• Branchiootic syndrome 0 trials
  3 sub-types

  • Branchiootic syndrome 1 0 trials
  • Branchiootic syndrome 2 0 trials
  • Branchiootic syndrome 3 0 trials
• Camptodactyly syndrome, Guadalajara type 1 0 trials
• Camptodactyly syndrome, Guadalajara type 2 0 trials
• Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
• Cataract-aberrant oral frenula-growth delay syndrome 0 trials
• Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 trials
• Cleft lip-retinopathy syndrome 0 trials
• Cleft lip/palate-intestinal malrotation-cardiopathy syndrome 0 trials
• Cleft palate-lateral synechia syndrome 0 trials
• Congenital vertebral-cardiac-renal anomalies syndrome 0 trials
  3 sub-types

  • Vertebral, cardiac, renal, and limb defects syndrome 1 0 trials
  • Vertebral, cardiac, renal, and limb defects syndrome 2 0 trials
  • Vertebral, cardiac, renal, and limb defects syndrome 3 0 trials
• Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 0 trials
• Craniofacial-deafness-hand syndrome 0 trials
• Craniolenticulosutural dysplasia 0 trials
• Cryptomicrotia-brachydactyly-excess fingertip arch syndrome 0 trials
• Deafness-craniofacial syndrome 0 trials
• Developmental malformations-deafness-dystonia syndrome 0 trials
• Diaphragmatic defect-limb deficiency-skull defect syndrome 0 trials
• Digitotalar dysmorphism 0 trials
  3 sub-types

  • Arthrogryposis, distal, type 1A 0 trials
  • Arthrogryposis, distal, type 1B 0 trials
  • Digitotalar dysmorphism; ulnar drift, hereditary 0 trials
• Dislocation of the hip-dysmorphism syndrome 0 trials
• Dysmorphism-pectus carinatum-joint laxity syndrome 0 trials
• Even-plus syndrome 0 trials
• External auditory canal atresia-vertical talus-hypertelorism syndrome 0 trials
• Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 0 trials
• Femoral-facial syndrome 0 trials
• Fetal akinesia deformation sequence 0 trials
  5 sub-types

  • Fetal akinesia deformation sequence 1 0 trials
  • Fetal akinesia deformation sequence 2 0 trials
  • Fetal akinesia deformation sequence 3 0 trials
  • Fetal akinesia deformation sequence 4 0 trials
  • Fetal akinesia syndrome, X-linked 0 trials
• Flat face-microstomia-ear anomaly syndrome 0 trials
• Frontofacionasal dysplasia 0 trials
• Genito-palato-cardiac syndrome 0 trials
• Gingival fibromatosis-facial dysmorphism syndrome 0 trials
• Grange syndrome 0 trials
• Hand-foot-genital syndrome 0 trials
• Heart defect - tongue hamartoma - polysyndactyly syndrome 0 trials
• Heart defects-limb shortening syndrome 0 trials
• Heart-hand syndrome type 2 0 trials
• Hydrocephaly-tall stature-joint laxity syndrome 0 trials
• Hypertrichosis-acromegaloid facial appearance syndrome 0 trials
• Ichthyosis-oral and digital anomalies syndrome 0 trials
• Lethal congenital contracture syndrome 1 0 trials
• Lethal congenital contracture syndrome 3 0 trials
• Macrosomia-microphthalmia-cleft palate syndrome 0 trials
• Macrostomia-preauricular tags-external ophthalmoplegia syndrome 0 trials
• Mandibuloacral dysplasia 0 trials
  2 sub-types

  • Mandibuloacral dysplasia with type A lipodystrophy 0 trials
  • Mandibuloacral dysplasia with type B lipodystrophy 0 trials
• Median nodule of the upper lip 0 trials
• Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
• Microcephaly-albinism-digital anomalies syndrome 0 trials
• Microcephaly-cardiac defect-lung malsegmentation syndrome 0 trials
• Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 0 trials
• Mullerian duct anomalies-limb anomalies syndrome 0 trials
• Multinodular goiter-cystic kidney-polydactyly syndrome 0 trials
• Nasopalpebral lipoma-coloboma syndrome 0 trials
• Nephrosis-deafness-urinary tract-digital malformations syndrome 0 trials
• Night blindness-skeletal anomalies-dysmorphism syndrome 0 trials
• Otoonychoperoneal syndrome 0 trials
• Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 trials
• Pectus excavatum-macrocephaly-dysplastic nails syndrome 0 trials
• Pentalogy of Cantrell 0 trials
• Polysyndactyly-cardiac malformation syndrome 0 trials
• Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0 trials
• Progressive non-infectious anterior vertebral fusion 0 trials
• Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0 trials
• Rapadilino syndrome 0 trials
• Renal-genital-middle ear anomalies 0 trials
• Scalp-ear-nipple syndrome 0 trials
• Short stature-craniofacial anomalies-genital hypoplasia syndrome 0 trials
• Short stature-valvular heart disease-characteristic facies syndrome 0 trials
• Short tarsus-absence of lower eyelashes syndrome 0 trials
• Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
• Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
• Structural heart defects and renal anomalies syndrome 0 trials
• Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
• Tetraamelia-multiple malformations syndrome 0 trials
  2 sub-types

  • Tetraamelia syndrome 1 0 trials
  • Tetraamelia syndrome 2 0 trials
• Thymic-renal-anal-lung dysplasia 0 trials
• Trigonocephaly-bifid nose-acral anomalies syndrome 0 trials
• Van den Ende-Gupta syndrome 0 trials
• Velo-facial-skeletal syndrome 0 trials
• Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 0 trials
• Von Voss-Cherstvoy syndrome 0 trials
• White forelock with malformations 0 trials