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Holt-Oram syndrome

MeSH: C535326ORPHA: 392

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Holt-Oram syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal humerus morphologyAbnormal clavicle morphologySplit handJoint stiffnessAbnormal cardiovascular system morphologyTriphalangeal thumbVentricular septal defectAtrial septal defectAtrioventricular blockScoliosisKyphosisParoxysmal atrial fibrillationAbnormal metacarpal morphologyAplasia/Hypoplasia of the radiusAbsent thumbFirst degree atrioventricular blockPectus excavatumAbnormal rib morphologySprengel anomalyPatent ductus arteriosusAbnormal aortic morphologyRadioulnar synostosisHypoplastic left ventricleFinger syndactylyAtrioventricular canal defectPhocomeliaAnomalous pulmonary venous returnBroad thumbDown-sloping shoulders

Classification & Codes

MeSH Code

C535326

Orphanet Code

ORPHA:392
Holt-Oram syndrome
MeSHC535326
OrphanetORPHA:392
Treatments0 drug(s)
Symptoms on record29 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO