Williams Syndrome (Beuren Syndrome)
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
Specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips, colic or feeding problems., attention deficit hyperactivity disorder (adhd), learning disorders., inward bend of pinky finger., specific phobias., short stature., speech delays.
It is likely that the elastin gene deletion accounts for many of the physical features of williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome. The extent of these deletions may vary among individuals.