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Disease Information for Holt-Oram syndrome

Clinical Manifestations
Signs & Symptoms: Cardiac Symptoms/Signs; P2 sound accentuated; Right ventricular heave
: Absent thumbs deformity; Asymmetric hand/feet arthritis; Hypoplastic thumb deformity; Narrow sloping shoulders; Short forearm deformity
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Family History: Family history/Skeletal malformations
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all
Diagnostic Test Results
Other Tests & Procedures: Heart cath/Right ventricle end diastolic/high; Jugular venous tracing/a wave prominent
EKG (ECG): EKG/Right-axis deviation (ECG)
X-RAY: Fluoroscopy/Cardiac/Chest abnormal
: Xray/Pulm arteries dilated/distal narrow/Chest
Ultrasound: Echo/Pulmonary artery hypertension
Angiography: Heart cath/Right side abnormal
Associated Diseases & Rule outs
Associated Disease & Complications: Atrial septal defect; Atrial septal defect, ostium secundum; Coarctation of aorta; Congenital heart disease; Eisenmenger's syndrome/pulmonary hypertension; Limb deformities/anomalies; Patent ductus arteriosis; Phocomelia; Pulmonary hypertension; Pulmonary hypertension, secondary; Right ventricular hypertrophy; Shunt, intracardiac; Skeletal dysplasia; Skeletal/bone malformations; Syndactyly/Webbing; Valvular heart disease; Ventricular septal defect
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
: CLASS/Cardiovascular (category); CLASS/Heart disorder (ex)
: CLASS/Muscle/tendon/extremities (category)
: CLASS/Systemic/no comment (category)
Pathophysiology: Pathophysiology/Gene locus 12q24.1; Pathophysiology/Gene locus chromosome 12; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process: PROCESS/Autosomal recessive disorder (ex); PROCESS/Congenital/developmental (category); PROCESS/Eponymic (category); PROCESS/Genetic expressivity variable (ex); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Esoteric disease (example)
: PROCESS/Congenital heart disease (ex)
: PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym: Atrio digital syndrome, ATRIODIGITAL DYSPLASIA, Cardiac limb syndrome, HEART HAND SYNDROME, Holt Oram, Holt Oram syndrome, Holt Oram syndrome (disorder), Holt Oram syndrome (dup) (disorder), HOS, HOS1, Synonym/Atriodigital dysplasia syndrome, Synonym/Pectoralis muscle absent/Congenital, Synonym/Upper limb cardiovascular syndrome
Definition: Be the first to add a definition for Holt-Oram syndrome
External Links Related to Holt-Oram syndrome: Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

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