ORPHA:330206
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Synonyms: Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability | Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism) |
| fr | Anomalies congénitales multiples sans déficience intellectuelle d'origine génétique | Anomalies congénitales variables sans déficience intellectuelle (avec ou sans dysmorphie) d'origine génétique · MCA d'origine génétique |
| de | Genetisch bedingte multiple kongenitale Anomalien/Dysmorphie-Syndrome ohne Intelligenzminderung | MCA, genetische Formen · Multiple kongenitale Anomalien ohne Intelligenzminderung (mit oder ohne Dysmorphien), genetische Formen |
| es | Anomalías congénitas múltiples/síndrome dismórfico sin discapacidad intelectual de origen genético | Anomalías congénitas múltiples genéticas sin discapacidad intelectual con o sin dismorfia |
| it | Sindrome dismorfica/anomalie congenite multiple di origine genetica senza deficit cognitivo | Anomalie congenite multiple di origine genetica senza deficit cognitivo (con o senza dismorfismi) · Anomalie congenite multiple, di origine genetica, senza deficit cognitivo (con o senza dismorfismi) · MCA genetiche |
| nl | Genetische meervoudige congenitale anomalieën/dysmorfiesyndroom zonder intellectuele achterstand | Genetische MCA · Genetische meervoudige congenitale anomalieën zonder intellectuele achterstand (met of zonder dysmorfie) |
| pt | Síndrome de anomalias congénitas múltiplas genéticas/dismorfias sem perturbação do desenvolvimento intelectual | Anomalias congénitas múltiplas genéticas sem perturbação do desenvolvimento intelectual (com ou sem dismorfia) · MCA genética |
| pl | Mnogie wady wrodzone uwarunkowane genetycznie/zespół dysmorficzny bez niepełnosprawności intelektualnej | Mnogie wady wrodzone uwarunkowane genetycznie bez niepełnosprawności intelektualnej (z lub bez dysmorfii) |
| cs | Geneticky podmíněné mnohočetné vrozené vady/dysmorfický syndrom bez mentální retardace | Geneticky podmíněné MCA · Geneticky podmíněné mnohočetné vrozené vady bez mentální retardace (s nebo bez dysmorfismu) |
| uk | Генетично обумовлені множинні вроджені аномалії/дисморфічні синдроми без інтелектуальної недостатності | Генетична MCA · Генетичні множинні вроджені аномалії без інтелектуальної недостатності (з дисморфізмом або без нього) |
| zh | 遗传性多发性先天性异常/畸形综合征不伴智力障碍 | 遗传性MCA |
| tr | Zihinsel engeli olmayan genetik çoklu doğumsal anomaliler/dismorfik sendromu | Zihinsel yetersizlik ile seyretmeyen genetik çoklu doğumsal anomaliler (dismorfizm olsun veya olmasın) · Genetik MCA |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5679853 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183533Genetic multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases
Children (177):
- ORPHA:26420014q22q23 microdeletion syndrome
- ORPHA:26163M syndrome
- ORPHA:9933049,XYYYY syndrome
- ORPHA:1783038q22.1 microdeletion syndrome
- ORPHA:916Aase-Smith syndrome type 1
- ORPHA:921Abruzzo-Erickson syndrome
- ORPHA:3328Absent tibia-polydactyly-arachnoid cyst syndrome
- ORPHA:958Acro-renal-mandibular syndrome
- ORPHA:959Acro-renal-ocular syndrome
- ORPHA:949Acrocraniofacial dysostosis
- ORPHA:952Acrofacial dysostosis, Weyers type
- ORPHA:971Acrorenal syndrome
- ORPHA:52Alagille syndrome
- ORPHA:2007Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- ORPHA:1094Anonychia-microcephaly syndrome
- ORPHA:1104Anophthalmia plus syndrome
- ORPHA:1101Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- ORPHA:1253Ascher syndrome
- ORPHA:1352Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- ORPHA:77300Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:2964Autosomal dominant prognathism
- ORPHA:1974Autosomal recessive faciodigitogenital syndrome
- ORPHA:2990Autosomal recessive multiple pterygium syndrome
- ORPHA:782Axenfeld-Rieger syndrome
- ORPHA:567502B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
- ORPHA:217266BNAR syndrome
- ORPHA:107BOR syndrome
- ORPHA:1231Barber-Say syndrome
- ORPHA:1237Beemer-Ertbruggen syndrome
- ORPHA:1241Bencze syndrome
- ORPHA:1997Blepharo-cheilo-odontic syndrome
- ORPHA:2057Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- ORPHA:1295Brachytelephalangy-dysmorphism-Kallmann syndrome
- ORPHA:52047Braddock syndrome
- ORPHA:1297Branchio-oculo-facial syndrome
- ORPHA:52429Branchiootic syndrome
- ORPHA:1200Burn-McKeown syndrome
- ORPHA:139CHILD syndrome
- ORPHA:1458CODAS syndrome
- ORPHA:1327Camptodactyly syndrome, Guadalajara type 1
- ORPHA:1326Camptodactyly syndrome, Guadalajara type 2
- ORPHA:1323Camptodactyly-joint contractures-facial skeletal defects syndrome
- ORPHA:647811Cardiac-urogenital syndrome
- ORPHA:1373Cataract-aberrant oral frenula-growth delay syndrome
- ORPHA:1406Charlie M syndrome
- ORPHA:184Cherubism
- ORPHA:726700Chitayat syndrome
- ORPHA:508476Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
- ORPHA:2001Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- ORPHA:2016Cleft palate-lateral synechia syndrome
- ORPHA:2050Cole-Carpenter syndrome
- ORPHA:521438Congenital vertebral-cardiac-renal anomalies syndrome
- ORPHA:314002Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
- ORPHA:141132Craniofacial microsomia
- ORPHA:1529Craniofacial-deafness-hand syndrome
- ORPHA:50814Craniolenticulosutural dysplasia
- ORPHA:1547Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- ORPHA:2674Cyprus facial-neuromusculoskeletal syndrome
- ORPHA:2437Czeizel-Losonci syndrome
- ORPHA:1563Dahlberg-Borer-Newcomer syndrome
- ORPHA:3241Deafness-craniofacial syndrome
- ORPHA:79107Developmental malformations-deafness-dystonia syndrome
- ORPHA:2141Diaphragmatic defect-limb deficiency-skull defect syndrome
- ORPHA:2412Dislocation of the hip-dysmorphism syndrome
- ORPHA:1146Distal arthrogryposis type 1
- ORPHA:508Donohue syndrome
- ORPHA:2104Dysmorphism-pectus carinatum-joint laxity syndrome
- ORPHA:496751EVEN-plus syndrome
- ORPHA:3023External auditory canal atresia-vertical talus-hypertelorism syndrome
- ORPHA:1969Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- ORPHA:84Fanconi anemia
- ORPHA:1988Femoral-facial syndrome
- ORPHA:994Fetal akinesia deformation sequence
- ORPHA:2256Fibulo-ulnar hypoplasia-renal anomalies syndrome
- ORPHA:1968Flat face-microstomia-ear anomaly syndrome
- ORPHA:2052Fraser syndrome
- ORPHA:2053Freeman-Sheldon syndrome
- ORPHA:1791Frontofacionasal dysplasia
- ORPHA:2075Genitopalatocardiac syndrome
- ORPHA:2025Gingival fibromatosis-facial dysmorphism syndrome
- ORPHA:376Gordon syndrome
- ORPHA:79094Grange syndrome
- ORPHA:380Greig cephalopolysyndactyly syndrome
- ORPHA:658805Greig cephalopolysyndactyly-contiguous gene syndrome
- ORPHA:2438Hand-foot-genital syndrome
- ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndrome
- ORPHA:1354Heart defects-limb shortening syndrome
- ORPHA:1350Heart-hand syndrome type 2
- ORPHA:1342Heart-hand syndrome type 3
- ORPHA:2155Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:2150Hirschsprung disease-type D brachydactyly syndrome
- ORPHA:392Holt-Oram syndrome
- ORPHA:2167Holzgreve syndrome
- ORPHA:2181Hydrocephaly-tall stature-joint laxity syndrome
- ORPHA:2211Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:685067Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
- ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- ORPHA:2272Ichthyosis-oral and digital anomalies syndrome
- ORPHA:2319Juberg-Hayward syndrome
- ORPHA:2662Keipert syndrome
- ORPHA:83628LUMBAR syndrome
- ORPHA:2363Lacrimoauriculodentodigital syndrome
- ORPHA:1486Lethal congenital contracture syndrome type 1
- ORPHA:137776Lethal congenital contracture syndrome type 2
- ORPHA:137783Lethal congenital contracture syndrome type 3
- ORPHA:83619Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- ORPHA:2457Mandibuloacral dysplasia
- ORPHA:643503Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
- ORPHA:560Marshall syndrome
- ORPHA:2470Matthew-Wood syndrome
- ORPHA:1248Maxillonasal dysplasia
- ORPHA:2473McKusick-Kaufman syndrome
- ORPHA:2484Melnick-Needles syndrome
- ORPHA:2631Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- ORPHA:2513Microcephaly-albinism-digital anomalies syndrome
- ORPHA:2516Microcephaly-cardiac defect-lung malsegmentation syndrome
- ORPHA:217026Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
- ORPHA:688581Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
- ORPHA:2091Multinodular goiter-cystic kidney-polydactyly syndrome
- ORPHA:1655Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- ORPHA:2491Müllerian duct anomalies-limb anomalies syndrome
- ORPHA:245Nager syndrome
- ORPHA:2399Nasopalpebral lipoma-coloboma syndrome
- ORPHA:2669Nephrosis-deafness-urinary tract-digital malformations syndrome
- ORPHA:1390Night blindness-skeletal anomalies-dysmorphism syndrome
- ORPHA:647Nijmegen breakage syndrome
- ORPHA:240760Nijmegen breakage syndrome-like disorder
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:2549Oculoauriculovertebral spectrum with radial defects
- ORPHA:2717Oculotrichoanal syndrome
- ORPHA:2793Otoonychoperoneal syndrome
- ORPHA:991PAGOD syndrome
- ORPHA:2825PARC syndrome
- ORPHA:2876PHAVER syndrome
- ORPHA:2835Pectus excavatum-macrocephaly-dysplastic nails syndrome
- ORPHA:1335Pentalogy of Cantrell
- ORPHA:2934Polysyndactyly-cardiac malformation syndrome
- ORPHA:2703Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- ORPHA:246Postaxial acrofacial dysostosis
- ORPHA:2064Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- ORPHA:2062Progressive non-infectious anterior vertebral fusion
- ORPHA:2561Pyramidal molars-abnormal upper lip syndrome
- ORPHA:3021RAPADILINO syndrome
- ORPHA:2252Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- ORPHA:3102Richieri Costa-Pereira syndrome
- ORPHA:1519SPECC1L-related hypertelorism syndrome
- ORPHA:2036Scalp-ear-nipple syndrome
- ORPHA:2353Schilbach-Rott syndrome
- ORPHA:397623Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- ORPHA:2994Short stature-craniofacial anomalies-genital hypoplasia syndrome
- ORPHA:2868Short stature-valvular heart disease-characteristic facies syndrome
- ORPHA:2832Short tarsus-absence of lower eyelashes syndrome
- ORPHA:71271Split hand-split foot-deafness syndrome
- ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome
- ORPHA:689822Structural heart defects-renal anomalies syndrome
- ORPHA:3191Subaortic stenosis-short stature syndrome
- ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:3301Tetraamelia-multiple malformations syndrome
- ORPHA:3316Thomas syndrome
- ORPHA:3326Thymic-renal-anal-lung dysplasia
- ORPHA:857Townes-Brocks syndrome
- ORPHA:861Treacher-Collins syndrome
- ORPHA:3368Trigonocephaly-bifid nose-acral anomalies syndrome
- ORPHA:2460Van den Ende-Gupta syndrome
- ORPHA:888Van der Woude syndrome
- ORPHA:3424Velo-facial-skeletal syndrome
- ORPHA:3201Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
- ORPHA:3429Verloove Vanhorick-Brubakk syndrome
- ORPHA:1493Vici syndrome
- ORPHA:3439Von Voss-Cherstvoy syndrome
- ORPHA:3440Waardenburg syndrome
- ORPHA:280558Warsaw breakage syndrome
- ORPHA:3449Weill-Marchesani syndrome
- ORPHA:2475White forelock with malformations
- ORPHA:659873Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/330206
- This record as JSON: /data/d/330206.json