Definition of Dubowitz syndrome

Reviewed on 6/3/2021

Dubowitz syndrome: a rare genetic and developmental disorder characterized by multiple congenital abnormalities (birth defects). These include short stature, characteristic facial abnormalities, a small head (microcephaly), intellectual disability, and eczema of the skin. Those affected can also suffer from behavioral problems, memory or learning problems, bone defects, and an increased risk of certain cancer types. There is no laboratory test to diagnose the condition, and the diagnosis is made by observing the characteristic symptoms. The condition has not been linked to a single genetic change, but some people who are diagnosed with the syndrome may have mutations in the NSUN2 and LIG4 genes or have loss or gain of microscopic material in some chromosomes.

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References
Dubowitz syndrome. NIH; Genetic and Rare Diseases Information Center.
<https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome>

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