ArticleOrphanet journal of rare diseases2014
Holt Oram syndrome: a registry-based study in Europe.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 60 citations in OpenAlex.
- Holt-Oram syndrome presenting with failure to thrive due to a hemodynamically significant patent ductus arteriosus: the importance of early cardiac evaluation in infants with radial ray abnormalities.International journal of surgery case reports · 2026Article
- Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.Journal of cardiothoracic surgery · 2026Article
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- Holt-Oram Syndrome With Complex Cardiac and Limb Anomalies in an Ethiopian Patient: A Case Report.Case reports in cardiology · 2026Article
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- Case report: Novel TBX5-related pathogenic mechanism of Holt-Oram syndrome.Frontiers in genetics · 2023Article
- Tbx5a and Tbx5b paralogues act in combination to control separate vectors of migration in the fin field of zebrafish.Developmental biology · 2022Article
- Identification of deleterious single nucleotide polymorphism (SNP)s in the humanBiochemistry and biophysics reports · 2021Article
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.Brain : a journal of neurology · 2020Article
- Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.European journal of human genetics : EJHG · 2019Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- EUROCAT: an update on its functions and activities.Journal of community genetics · 2018Article
- Holt-Oram Syndrome With Multiple Cardiac Abnormalities.Cardiology research · 2018Article
- The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.International journal of environmental research and public health · 2018Article
- Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.Scientific reports · 2018Article
- Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.HeartRhythm case reports · 2018Article
- A novel de novoThe application of clinical genetics · 2018Article
- TBX5: A Key Regulator of Heart Development.Current topics in developmental biology · 2017Review
- Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.Journal of medical case reports · 2016Article
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Authors and funding
25 authors at 20 institutions in 14 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHolt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries.
methodsThe study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS.
resultsA total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births.
conclusionsHOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.
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