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: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Holt-Oram syndrome: 82
      - Heart Septal Defects: 41
        Atrial Heart Septal Defects: 2183
        Holt-Oram syndrome: 82
  - Multiple Abnormalities: 211
    - Holt-Oram syndrome: 82
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Congenital Lower Extremity Deformities
        Holt-Oram syndrome: 82
      - Congenital Upper Extremity Deformities
        Holt-Oram syndrome: 82
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Holt-Oram syndrome: 82
    - Heart Septal Defects: 41
      - Atrial Heart Septal Defects: 2183
        Holt-Oram syndrome: 82
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Holt-Oram syndrome: 82
    - Heart Septal Defects: 41
      - Atrial Heart Septal Defects: 2183
        Holt-Oram syndrome: 82
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Congenital Lower Extremity Deformities
      - Holt-Oram syndrome: 82
    - Congenital Upper Extremity Deformities
      - Holt-Oram syndrome: 82

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