Saal Bulas syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the

National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government The federal government of the United States (U.S. federal government or U ...

(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, split hand, or cleft hand (derived from Greek ''ektroma'' 'abortion' and ''daktylos'' 'finger') 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 malformat ...

or lobster-like hands,

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. Types * Congenital diaphragmatic hernia ** Morgagni's hernia ** Bochdalek hernia * Hiatal h ...

and absence of the

corpus callosum The corpus callosum (Latin for "tough body"), also callosal commissure, is a wide, thick nerve tract, consisting of a flat bundle of commissural fibers, beneath the cerebral cortex in the brain. The corpus callosum is only found in placental ...

. 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.

References

External links

Orpha.net - A listing of Rare diseasesNational Institute of Health - Office for Rare Diseases
Rare syndromes Corpus callosum Diseases named for discoverer {{Genetic-disorder-stub}