Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome is a very rare genetic condition that is recognized at birth. It is characterized by features that resemble premature aging. The signs seen at birth include a lack of adequate fat under the skin, sparse hair (hypotrichosis), a head that is relatively larger compared to the body (macrocephaly), and other facial and physical differences (dysmorphism). This syndrome presents immediately after birth with distinct physical characteristics. The early appearance of these traits helps doctors in considering and investigating this condition as a possible diagnosis.

The symptoms described in Wiedemann-Rautenstrauch syndrome include traits that resemble premature aging, decreased subcutaneous fat, sparse hair (hypotrichosis), a relatively large head (macrocephaly), and various dysmorphic features. These signs are usually apparent right from birth.

Wiedemann-Rautenstrauch syndrome has been linked with changes in the POLR3A gene. However, the exact genetic mechanism and other risk factors involved in this condition are not fully understood at this time.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.