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Primrose syndrome was originally described in 1982 and fewer than a dozen cases have been reported in the literature. The most distinctive clinical feature is a calcification (hardening) of the outer ear. Other findings include characteristic facial features, a large head (macrocephaly), and intellectual disability. A variety of neurological signs such as brain calcifications, autism, and behavioral abnormalities have been reported in some cases. Additional features such as diabetes, sparse body hair, and muscle wasting become apparent in adulthood. Research has found that some cases of Primrose syndrome are caused by a mutation in the ZBTB20 gene . Most cases have been sporadic.
Source: GARD Last updated on 05-01-20
Signs and symptoms of primrose syndrome vary from person to person and may include:
Last updated on 05-01-20
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