Baller-Gerold syndrome Q82.85

Baller F, 1950

Baller-Gerold syndrome (BGS) is a very rare disorder characterized by premature fusion of certain skull bones (craniosynostosis) and abnormalities of the arm and hand bones. People with Baller-Gerold syndrome have prematurely fused skull bones. These changes result in an abnormally shaped head, a protruding forehead, and bulging eyes with shallow sockets (ocular proptosis). Other characteristic facial features include hypertelorism, microstomia, and a saddle-shaped dysplastic nose. Furthermore, oligodactyly and malformed or absent thumbs.

People with Baller-Gerold syndrome may have a number of other signs and symptoms, including slow growth from infancy, short stature, and malformed or missing kneecaps (patellae). A few months after birth, signs of poikiloderma may appear, initially on the arms and legs, and later on other parts of the body (Van Maldergem L et al. 2022). In this respect, as in Rothmund-Thomson syndrome, increased epithelial neoplasms (spinocellular carcinomas, basal cell carcinomas) are to be expected.

The syndrome is caused by a mutation in the RECQL4 gene.

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