Disease Information for Holt-Oram syndrome

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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
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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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