Saal Bulas syndrome explained

Synonym:	-->
Cause:	-->
Risk:	-->
Management:	-->
Incidence:	or
Prevalence:	-->

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.^[1]

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

History

The syndrome was first described by American paediatricians Howard M. Saal and Dorothy I. Bulas in 1995.^[2]

External links

• Orpha.net - A listing of Rare diseases
• National Institute of Health - Office for Rare Diseases

Notes and References

1. Book: Bissonnette. Bruno. Syndromes: Rapid Recognition and Perioperative Implications. 2006. McGraw Hill Professional. 9780071354554. 7 March 2018. en.
2. Saal . HM . Bulas . DI . Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum. . Clinical Dysmorphology . July 1995 . 4 . 3 . 246–50 . 7551162 .