Agent Commons Collaborative Research

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

rare
Identifiers
MONDO:0015161 Orphanet:102285
Part of
Multiple congenital anomalies/dysmorphic syndrome
Also known as
MCA without intellectual disability · multiple congenital anomalies without intellectual disability with or without dysmorphism

Subtypes

All diseases Rare only
Disease Subtypes
Fanconi anemia 22
Waardenburg syndrome 12
Fetal akinesia deformation sequence 5
Treacher-Collins syndrome 4
Weill-Marchesani syndrome 4
3-M syndrome 3
Alagille syndrome 3
Axenfeld-Rieger syndrome 3
Fraser syndrome 3
LADD syndrome 3
Noonan syndrome with multiple lentigines 3
Blepharocheilodontic syndrome 3
Branchiootic syndrome 3
Congenital vertebral-cardiac-renal anomalies syndrome 3
Digitotalar dysmorphism 3
Oculoauriculovertebral spectrum with radial defects 3
Cole-Carpenter syndrome 2
Townes-Brocks syndrome 2
Branchio-oto-renal syndrome 2
Mandibuloacral dysplasia 2
Tetraamelia-multiple malformations syndrome 2
Van der Woude syndrome 2
Freeman-Sheldon syndrome 1
Holt-Oram syndrome 1
Acrorenal syndrome 1
Autosomal recessive multiple pterygium syndrome 1
Cherubism 1
49,XYYYY syndrome
8q22.1 microdeletion syndrome
Aase-Smith syndrome
Abruzzo-Erickson syndrome
Ackerman syndrome
Ascher syndrome
BNAR syndrome
Barber-Say syndrome
Beare-Stevenson cutis gyrata syndrome
Beemer-Ertbruggen syndrome
Bencze syndrome
Binder syndrome
Braddock syndrome
CHILD syndrome
CODAS syndrome
Charlie M syndrome
Cooper-Jabs syndrome
Cyprus facial-neuromusculoskeletal syndrome
Czeizel-Losonci syndrome
Dahlberg-Borer-Newcomer syndrome
Donohue syndrome
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Fontaine progeroid syndrome
Frias syndrome
Gordon syndrome
Greig cephalopolysyndactyly-contiguous gene syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-type D brachydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
Juberg-Hayward syndrome
Keipert syndrome
Marshall syndrome
McKusick-Kaufman syndrome
Nager acrofacial dysostosis
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
PAGOD syndrome
PARC syndrome
PHAVER syndrome
Richieri Costa-Pereira syndrome
Richieri Costa-da Silva syndrome
SHORT syndrome
Schilbach-Rott syndrome
Thomas syndrome
Verloove Vanhorick-Brubakk syndrome
Vici syndrome
Warsaw breakage syndrome
Absent tibia-polydactyly-arachnoid cyst syndrome
Acro-renal-mandibular syndrome
Acrocraniofacial dysostosis
Acrofacial dysostosis, Weyers type
Acrofrontofacionasal dysostosis 2
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Anonychia-microcephaly syndrome
Anophthalmia plus syndrome
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Arhinia, choanal atresia, and microphthalmia
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Autosomal dominant prognathism
Autosomal recessive faciodigitogenital syndrome
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
Branchiooculofacial syndrome
Camptodactyly syndrome, Guadalajara type 1
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Cataract-aberrant oral frenula-growth delay syndrome
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Cleft lip-retinopathy syndrome
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Cleft palate-lateral synechia syndrome
Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
Craniofacial-deafness-hand syndrome
Craniolenticulosutural dysplasia
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Deafness-craniofacial syndrome
Developmental malformations-deafness-dystonia syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome
Dislocation of the hip-dysmorphism syndrome
Dysmorphism-pectus carinatum-joint laxity syndrome
Even-plus syndrome
External auditory canal atresia-vertical talus-hypertelorism syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Femoral-facial syndrome
Flat face-microstomia-ear anomaly syndrome
Frontofacionasal dysplasia
Genito-palato-cardiac syndrome
Gingival fibromatosis-facial dysmorphism syndrome
Grange syndrome
Hand-foot-genital syndrome
Heart defect - tongue hamartoma - polysyndactyly syndrome
Heart defects-limb shortening syndrome
Heart-hand syndrome type 2
Hydrocephaly-tall stature-joint laxity syndrome
Hypertrichosis-acromegaloid facial appearance syndrome
Ichthyosis-oral and digital anomalies syndrome
Lethal congenital contracture syndrome 1
Lethal congenital contracture syndrome 2
Lethal congenital contracture syndrome 3
Macrosomia-microphthalmia-cleft palate syndrome
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Median nodule of the upper lip
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Microcephaly-albinism-digital anomalies syndrome
Microcephaly-cardiac defect-lung malsegmentation syndrome
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Microphthalmia, syndromic 9
Mullerian duct anomalies-limb anomalies syndrome
Multinodular goiter-cystic kidney-polydactyly syndrome
Nasopalpebral lipoma-coloboma syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Otoonychoperoneal syndrome
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Pelvis syndrome
Pentalogy of Cantrell
Polysyndactyly-cardiac malformation syndrome
Postaxial acrofacial dysostosis
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Progressive non-infectious anterior vertebral fusion
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Rapadilino syndrome
Renal-genital-middle ear anomalies
Scalp-ear-nipple syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Short stature-craniofacial anomalies-genital hypoplasia syndrome
Short stature-valvular heart disease-characteristic facies syndrome
Short tarsus-absence of lower eyelashes syndrome
Split hand-foot malformation 1 with sensorineural hearing loss
Split-foot malformation-mesoaxial polydactyly syndrome
Structural heart defects and renal anomalies syndrome
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Thymic-renal-anal-lung dysplasia
Trigonocephaly-bifid nose-acral anomalies syndrome
Van den Ende-Gupta syndrome
Velo-facial-skeletal syndrome
Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
Von Voss-Cherstvoy syndrome
White forelock with malformations

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.