Saethre-Chotzen Syndrome

Background and History: 

This malformation syndrome is named after two psychiatrists who independently described it.  The clinical picture consists of a unique combination of skin and bone changes such as webbing between the toes, malformations of the skull, webbing between fingers and toes, and malformed ears.

Clinical Correlations: 

The sutures of the skull bones fuse abnormally causing the skull to be deformed, often asymmetrically.  The ears are misshapen and there may be clefting of the oral palate.  The frontal hairline may be low.   The fingers and toes appear short.  The lids often drop and the opening may slope downward.  Growth and mental development are normal.  Hearing loss is common and may be profound. These clinical features are highly variable, however, and the full clinical picture is unknown since there is considerable overlap with other similar syndromes.


Family patterns are consistent with autosomal dominant inheritance and direct transmission from parent to child has been documented.  Associated gene mutations have been found.

Diagnosis and Prognosis: 

The diagnosis requires a team approach as the clinical signs are highly variable and many are found in other syndromes as well.  Lifespan seems to be normal.  A report from Sweden suggests that there is an increased risk of breast cancer.  The abnormal skull sutures may require surgery and the cleft palate likewise should be repaired.

Additional Information
Autosomal dominant