Dubowitz Syndrome

Overview

Type of disease: Rare conditions

Dubowitz syndrome is a very rare genetic and developmental disorder marked variability in signs and symptoms. The findings of Dubowitz syndrome typically include growth failure/short stature; characteristic facial features such as small triangular face, high sloping foreheard, drooping eyelid (ptosis), short palpebral fissures, broad and flat nasal bridge; smaller than normal head (microcephaly), mild mental retardation, and eczema. Although the exact genetic cause of Dubowitz syndrome has not been identified, the condition is believed to be inherited in an autosomal recessive fashion based on studies of families affected by the syndrome. Treatment is based on the person's specific signs and symptoms. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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