Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome is a severe condition where the bones of the skull fuse too early (a condition known as craniosynostosis). Over half of the cases report a cloverleaf-shaped skull. People with this condition may have unusual skin patterns such as deep ridges called cutis gyrata, and corduroy-like linear lines. They may also show skin changes called acanthosis nigricans and have extra skin tags. In addition, the air passages near the back of the nose might be narrow or even blocked (choanal stenosis or atresia). There are other physical signs that may occur, including facial features that look similar to those seen in Crouzon disease, various ear abnormalities (such as conductive hearing loss and narrow ear canals), and differences in the development of the genitorurinary system. Affected individuals often have a prominent umbilical stump and may show anomalies in the placement or development of other body parts. This overview is based on the clinical definition and trusted genetic information provided for this condition.

People with this syndrome may experience a range of symptoms. Common features include premature closure of the skull bones, which can lead to an abnormal skull shape such as a cloverleaf skull. They may also have wrinkled or ridged skin (cutis gyrata), areas of thickened skin (acanthosis nigricans), and extra skin tags. In some cases, ear problems that affect hearing and other facial differences are noted. Additionally, there can be issues with the airways, which may lead to breathing difficulties.

Beare-Stevenson cutis gyrata syndrome is linked to changes in the FGFR2 gene. This gene plays an important role in bone development and skin formation. The mutation in the FGFR2 gene leads to the characteristic symptoms seen with this condition. Genetic factors are a key feature, as the change in the gene disrupts normal development.

Information about treatment is currently limited for this condition.

Studies have shown that Beare-Stevenson cutis gyrata syndrome can have a serious outlook. There is an elevated risk for sudden death in the first year of life for some affected individuals. For those who survive infancy, significant delays in development and challenges with intellectual functioning are common. This suggests that the overall condition requires careful medical monitoring over time.

Information about current research is currently limited for this condition.