Holt-Oram syndrome

A genetic condition with autosomal dominant inheritance that is characterized by skeletal abnormalities of the upper limbs, particularly thumb and wrist anomalies; additional skeletal abnormalities may also be present. About 75% of those affected have heart abnormalities, notably ATRIAL SEPTAL DEFECTS and cardiac conduction defects. Mutations in the TBX5 gene have been identified. OMIM: 142900

Also Known As:

Atrio-Digital Syndrome; Atriodigital dysplasia; Cardiac-Limb Syndrome; Cervico-Oculo-Acoustic Syndrome; Heart-Hand Syndrome, Type 1; Heart-hand syndrome; Ventriculo-Radial Syndrome; Wildervanck syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Congenital Heart Defects: 9139
      - Holt-Oram syndrome: 84
      - Heart Septal Defects: 42
        Atrial Heart Septal Defects: 2211
        Holt-Oram syndrome: 84
  - Multiple Abnormalities: 213
    - Holt-Oram syndrome: 84
  - Musculoskeletal Abnormalities: 46
    - Congenital Limb Deformities: 8
      - Congenital Lower Extremity Deformities
        Holt-Oram syndrome: 84
      - Congenital Upper Extremity Deformities
        Holt-Oram syndrome: 84
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Congenital Heart Defects: 9139
    - Holt-Oram syndrome: 84
    - Heart Septal Defects: 42
      - Atrial Heart Septal Defects: 2211
        Holt-Oram syndrome: 84
- Cardiovascular Abnormalities: 457
  - Congenital Heart Defects: 9139
    - Holt-Oram syndrome: 84
    - Heart Septal Defects: 42
      - Atrial Heart Septal Defects: 2211
        Holt-Oram syndrome: 84
Musculoskeletal Diseases: 751
- Musculoskeletal Abnormalities: 46
  - Congenital Limb Deformities: 8
    - Congenital Lower Extremity Deformities
      - Holt-Oram syndrome: 84
    - Congenital Upper Extremity Deformities
      - Holt-Oram syndrome: 84

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Disease

Drug/Important Bio-Agent (IBA)