Primrose syndrome

Primrose syndrome is a rare genetic condition that affects many parts of the body. It is characterized by a larger head (macrocephaly), low muscle tone (hypotonia), and intellectual disability. People with this condition may also have unique facial features, such as a wide forehead, droopy eyelids (ptosis), downslanting eye openings, enlarged and calcified external ears, and a prominent jaw. In addition, individuals with Primrose syndrome might have sparse body hair and tall stature. Other issues, including hearing loss, insulin-resistant diabetes, and muscle wasting that can lead to joint problems, may appear, especially in adulthood. Rarely, behavioral differences, hypothyroidism, brain calcification, ataxia, and peripheral nerve problems are reported. This summary is based on known clinical details of the condition.

Common symptoms of Primrose syndrome include a larger head size, low muscle tone, and certain facial features like a wide forehead, droopy eyelids, downslanting eye openings, enlarged and calcified ears, and a large jaw. People with this condition may also exhibit tall stature, sparse body hair, and intellectual disability. In some cases, hearing loss, insulin-resistant diabetes, and progressive muscle weakness that can lead to joint contractures are reported. Other less common symptoms include behavioral changes, hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

Primrose syndrome is caused by genetic changes. It is linked to alterations in the ZBTB20 gene, which plays a role in body development. These genetic changes lead to the features seen in this condition. Detailed risk factors and inheritance patterns are still being explored.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.