Saal Bulas syndrome
Encyclopedia
Saal Bulas syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health
National Institutes of Health
The National Institutes of Health are an agency of the United States Department of Health and Human Services and are the primary agency of the United States government responsible for biomedical and health-related research. Its science and engineering counterpart is the National Science Foundation...

 (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
Ectrodactyly
Ectrodactyly, sometimes referred to as the “Lobster-Claw Syndrome” involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation...

 or lobster-like hands, Diaphragmatic hernia
Diaphragmatic hernia
Diaphragmatic hernia is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity. Treatment is usually surgical.The following types of diaphragmatic hernia exist:* Congenital diaphragmatic hernia** Morgagni's hernia...

 and absence of the corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...



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
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