Loeys-Dietz syndrome is a disorder named after the two physicians who first identified and described it. The word syndrome tells us there is a cluster of signs and symptoms that are present in each child who has this disorder.
Loeys-Dietz affects multiple body systems including the skeletal system, the heart (cardiac) and blood vessels (circulatory system), and the skin. This problem is caused by a genetic mutation. They’ve even found the gene that has gone bad: TGF-ßR1 or TGF-ßR2. This particular gene is responsible for coding the growth factor-beta receptor.
For the affected child, the genetic mutation can mean the formation of aneurysms (weak blood vessel walls that can burst and bleed), scoliosis (spinal curvature), very thin skin, chest deformities, and severe foot deformities (clubfoot). Other problems observed in children with Loeys-Dietz include an unstable cervical spine (neck), small jaw, cleft palate, hip dysplasia, and many other skeletal deformities.
Some features of this disorder are very distinctive (e.g., cleft palate, clubfoot). There may be a condition called hypertelorism, which is an abnormal distance between the eyes.
Craniosynostosis is another telltale skeletal feature. This refers to the premature fusion of the cranial (skull) bones. Early fusion of this type prevents the brain from growing normally. The child ends up with an abnormally shaped head and face. Delays in development (especially motor skills) are also common when brain growth is restricted.
We are not painting a very rosy picture here. But before thinking the worst, find out more about how this condition has affected your grandson. The fact that the diagnosis has been made so early is very positive. Early treatment of some of the associated conditions can change the picture for these children (in a positive way).