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heart defects-limb shortening syndrome

MeSH: C535850ORPHA: 1354

Contents

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

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 heart defects-limb shortening syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal rib morphologyNarrow chestAbnormal metaphysis morphologyVentricular septal defectAtrial septal defectAbnormal mitral valve morphologyAbnormal tricuspid valve morphologyKyphosisAbnormal form of the vertebral bodiesDisproportionate short statureAbnormality of the pulmonary arteryMesomelic/rhizomelic limb shorteningAccelerated skeletal maturation

Classification & Codes

MeSH Code

C535850

Orphanet Code

ORPHA:1354
heart defects-limb shortening syndrome
MeSHC535850
OrphanetORPHA:1354
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO