Grubben-de Cock-Borghgraef syndrome

Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome. It is characterized by pre- and postnatal growth deficiency and generalized muscular hypotonia. In addition, many people with this condition experience developmental delays, particularly with speech and language, along with small, puffy hands and feet. Dental anomalies, such as small and widely-spaced teeth, and eczema-like skin changes are also noted. Some individuals may show additional features such as hypotrophy of the distal extremities, partial absence of the corpus callosum, and a selective immunoglobulin IgG2 subclass deficiency. These features help provide an overall clinical picture for the condition.

Common signs and symptoms include growth deficiency before and after birth, weak muscles (generalized hypotonia), and delays in development, especially in speech and language. Other features may include smaller or underdeveloped distal extremities, small and puffy hands and feet, skin rashes that resemble eczema, and dental anomalies such as small, widely spaced teeth. In some cases, there can be brain differences like partial agenesis of the corpus callosum and a deficiency in the IgG2 subclass of immunoglobulins.

The specific cause of Grubben-de Cock-Borghgraef syndrome is not well understood. While the condition has a genetic basis, no specific genes have been identified to date. Research is ongoing to better understand the genetic and other possible factors that contribute to this syndrome.

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.