Saal Bulas Syndrome

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Retrieved
2021-01-18
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Saal Bulas syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Saal Bulas syndrome, or a subtype of Saal Bulas syndrome, affects fewer than 200,000 people in the US population.

Signs and symptoms

This syndrome consists of ectrodactyly or lobster-like hands, diaphragmatic hernia and absence of the corpus callosum.

In addition to these the following problems may also be present.

  • abnormal alimentary tract
  • cardiac septal defect
  • low hair line in front
  • oligodactyly or missing fingers
  • respiratory distress
  • stillbirth/neonatal death

Diagnosis

Treatment

History

The syndrome was first described by American paediatricians Howard M. Saal and Dorothy I. Bulas in 1995.