Beare-Stevenson Syndrome

Background and History: 

This syndrome with severe multiple congenital anomalies was described several decades ago by J.M Baere, a British dermatologist, and R.E. Stevenson.

Clinical Correlations: 

Infants are born with a misshapen head called craniosynostosis and may develop hydrocephalus.  The skull is elongated vertically and flattened in the anterior-posterior dimension.  The face appears flattened and as a result the eyes appear to be too far apart and to be exceptionally prominent.  Also present at birth are excessive folds of skin, especially evident at the back of the skull and on the palms and soles.  The ears are low and malformed.  The mouth is small and may have a large number of teeth.

Anomalies of the upper breathing tube may cause breathing difficulties and a tracheotomy and a feeding tube are sometimes necessary.  The genitalia and the anal opening may be malformed.


Infants with this syndrome often have a specific gene change (mutation).  Because they do not reproduce, individuals with this syndrome appear sporadically rather than in a familial pattern.  Nevertheless, the gene mutation, since it occurs in only one of two paired genes, is considered to be a dominant gene and, further, because the paternal parent is usually older, most likely is a new mutation in most cases.

Diagnosis and Prognosis: 

The prognosis is guarded, primarily due to respiratory difficulties from airway obstruction.  Infants seldom live beyond several months of age.  Surgeries for airway obstruction and hydrocephalus has been applied successfully in several individuals but even so death may occur early.

Additional Information
Autosomal dominant