What is Dubowitz Syndrome?

Dubowitz Syndrome Information and Parent Support

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Dubowitz syndrome is a malformation syndrome defined by prenatal and postnatal growth retardation, microcephaly, and a characteristic facial appearance. First described in 1965 by Dr. Victor Dubowitz, the condition was further defined by Dr. John Opitz who proposed the designation Dubowitz syndrome.

It is present at birth and is thought to be caused by a single defective gene. Neither the location of the gene nor the pathogenesis by which the diverse manifestations are produced are yet known. The condition is not caused by anything the parents did or did not do. It is present in the fetus from the beginning of that individual's development.

Originally believed to be very rare, it is now thought that Dubowitz syndrome may not be as rare as it is under-diagnosed. As awareness of the syndrome increases, affected individuals are being diagnosed in greater numbers. It is our hope that this material will help to promote public awareness of the syndrome and provide families and others with easily accessible information in layman's terms.

Table of Contents

First descriptions

Diagnosis

Defining manifestations

Frequent physical characteristics

Occasional features

Cause and prevalence

Behavioral and cognitive features

Medical problems

References/bibliography

Disclaimer: This discussion is offered for informational and educational purposes
only and should not be regarded as medical advice.

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Last update: February 17, 2002 Dubowitz Syndrome Information & Parent Support Contact: support@dubowitz.org