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Orphanet classification of rare cardiac malformations

Rare surgical cardiac disease ORPHA:97965
- Rare syndrome with cardiac malformations ORPHA:156532
  - 22q11.2 deletion syndrome ORPHA:567
  - 8q24.3 microdeletion syndrome ORPHA:508488
  - Alagille syndrome ORPHA:52
  - Atrial septal defect-atrioventricular conduction defects syndrome ORPHA:1479
  - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
  - Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
  - Bosley-Salih-Alorainy syndrome ORPHA:69737
  - Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389
  - Cardiac anomalies-heterotaxy syndrome ORPHA:137628
  - Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
  - CHARGE syndrome ORPHA:138
  - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
  - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
  - Congenital disorder of glycosylation with cardiac malformation as a major feature ORPHA:371183
  - Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
  - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
  - Down syndrome ORPHA:870
  - Ellis Van Creveld syndrome ORPHA:289
  - Familial retinal arterial macroaneurysm ORPHA:284247
  - Heart defects-limb shortening syndrome ORPHA:1354
  - Holt-Oram syndrome ORPHA:392
  - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
  - Lethal brain and heart developmental defects ORPHA:580933
  - Microcephaly-cardiac defect-lung malsegmentation syndrome ORPHA:2516
  - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026
  - Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
  - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
  - Noonan syndrome and Noonan-related syndrome ORPHA:98733
  - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
  - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
  - PHACE syndrome ORPHA:42775
  - Polyvalvular heart disease syndrome ORPHA:228410
  - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
  - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176
  - Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
  - Subaortic stenosis-short stature syndrome ORPHA:3191
  - TARP syndrome ORPHA:2886
  - Thomas syndrome ORPHA:3316
  - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
  - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
  - Transketolase deficiency ORPHA:488618
  - White forelock with malformations ORPHA:2475
  - Williams syndrome ORPHA:904

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