Category: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Also known as: Genetic MCA, Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)- 14q22q23 microdeletion syndrome
- 3-M syndrome
- 49,XYYYY syndrome
- 8q22.1 microdeletion syndrome
- Aase-Smith syndrome
- Abruzzo-Erickson syndrome
- Absent tibia-polydactyly-arachnoid cyst syndrome
- Acro-renal-mandibular syndrome
- Acro-renal-ocular syndrome
- Acrocraniofacial dysostosis
- Acrorenal syndrome
- Alagille syndrome
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- Anonychia-microcephaly syndrome
- Anophthalmia plus syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Arrhinia-choanal atresia-microphthalmia syndrome
- Ascher syndrome
- 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
- Autosomal recessive multiple pterygium syndrome
- Axenfeld-Rieger syndrome
- BNAR syndrome
- BOR syndrome
- Barber-Say syndrome
- Beare-Stevenson cutis gyrata syndrome
- Beemer-Ertbruggen syndrome
- Bencze syndrome
- Blepharocheilodontic syndrome
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Braddock syndrome
- Branchio-oculo-facial syndrome
- Branchiootorenal/branchiootic syndrome
- Burn-McKeown syndrome
- CODAS syndrome
- Camptodactyly syndrome, Guadalajara type 1
- Camptodactyly syndrome, Guadalajara type 2
- Cataract-aberrant oral frenula-growth delay syndrome
- Charlie M syndrome
- Cherubism
- Cleft lip-retinopathy syndrome
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Cleft palate-lateral synechia syndrome
- Cole-Carpenter syndrome
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
- Cooper-Jabs syndrome
- Craniofacial microsomia
- Craniofacial-deafness-hand syndrome
- Craniolenticulosutural dysplasia
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- Cyprus facial-neuromusculoskeletal syndrome
- Czeizel-Losonci syndrome
- Dahlberg-Borer-Newcomer syndrome
- Deafness-craniofacial syndrome
- Developmental malformations-deafness-dystonia syndrome
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Dislocation of the hip-dysmorphism syndrome
- Distal arthrogryposis type 1
- Donohue syndrome
- Dysmorphism-pectus carinatum-joint laxity syndrome
- External auditory canal atresia-vertical talus-hypertelorism syndrome
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Fanconi anemia
- Femoral-facial syndrome
- Fetal akinesia deformation sequence
- Fibulo-ulnar hypoplasia-renal anomalies syndrome
- Flat face-microstomia-ear anomaly syndrome
- Fraser syndrome
- Freeman-Sheldon syndrome
- Frontofacionasal dysplasia
- Genitopalatocardiac syndrome
- Gingival fibromatosis-facial dysmorphism syndrome
- Gordon syndrome
- Gorlin-Chaudhry-Moss syndrome
- Grange syndrome
- Hand-foot-genital syndrome
- Heart defect-tongue hamartoma-polysyndactyly syndrome
- Heart defects-limb shortening syndrome
- Heart-hand syndrome type 2
- Heart-hand syndrome type 3
- Hirschsprung disease-deafness-polydactyly syndrome
- Hirschsprung disease-type D brachydactyly syndrome
- Holt-Oram syndrome
- Holzgreve syndrome
- Hydrocephaly-tall stature-joint laxity syndrome
- Hypertelorism, Teebi type
- Hypertelorism-hypospadias-polysyndactyly syndrome
- Hypertrichosis-acromegaloid facial appearance syndrome
- Ichthyosis-oral and digital anomalies syndrome
- Juberg-Hayward syndrome
- Keipert syndrome
- LIG4 syndrome
- LUMBAR syndrome
- Lacrimo-auriculo-dento-digital syndrome
- Lethal congenital contracture syndrome type 1
- Lethal congenital contracture syndrome type 2
- Lethal congenital contracture syndrome type 3
- Macrosomia-microphthalmia-cleft palate syndrome
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- Mandibuloacral dysplasia
- Marshall syndrome
- Matthew-Wood syndrome
- Maxillonasal dysplasia
- McKusick-Kaufman syndrome
- Median nodule of the upper lip
- Melnick-Needles syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Microcephaly-albinism-digital anomalies syndrome
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
- Miller syndrome
- Multinodular goiter-cystic kidney-polydactyly syndrome
- Müllerian duct anomalies-limb anomalies syndrome
- Nager syndrome
- Nasopalpebral lipoma-coloboma syndrome
- Nephrosis-deafness-urinary tract-digital malformations syndrome
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Nijmegen breakage syndrome
- Nijmegen breakage syndrome-like disorder
- Noonan syndrome with multiple lentigines
- Oculoauriculovertebral spectrum with radial defects
- Otoonychoperoneal syndrome
- PAGOD syndrome
- PARC syndrome
- PHAVER syndrome
- Pectus excavatum-macrocephaly-dysplastic nails syndrome
- Pentalogy of Cantrell
- Polysyndactyly-cardiac malformation syndrome
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Pyramidal molar-glaucoma-upper abnormal lip syndrome
- RAPADILINO syndrome
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- Renal-genital-middle ear anomalies
- Richieri Costa-Pereira syndrome
- Richieri Costa-da Silva syndrome
- Scalp-ear-nipple syndrome
- Schilbach-Rott syndrome
- Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
- 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-split foot-deafness syndrome
- Split-foot malformation-mesoaxial polydactyly syndrome
- Stickler syndrome type 3
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Tetra-amelia syndrome
- Thomas syndrome
- Thymic-renal-anal-lung dysplasia
- Townes-Brocks Syndrome
- Treacher Collins syndrome
- Trigonocephaly-bifid nose-acral anomalies syndrome
- Van den Ende-Gupta syndrome
- Van der Woude syndrome
- Velo-facial-skeletal syndrome
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
- Verloove Vanhorick-Brubakk syndrome
- Vici syndrome
- Von Voss-Cherstvoy syndrome
- Waardenburg syndrome
- Warsaw breakage syndrome
- Weill-Marchesani syndrome
- Weissenbacher-Zweymüller syndrome
- Weyers acrofacial dysostosis
- White forelock with malformations
This Category:
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Subcategories:
- OrphaNet: ORPHA:330206
