Looking for something about rare diseases in children I found information about a little known disorder. There is a case between 15,000 and 20,000 and it is called Angelman syndrome.
I find it interesting to disclose it since early diagnosis is essential, both for the child's health and to calm the anguish of the parents.
It is also known as Happy Puppets disorder (happy puppet) due to some symptoms such as laughter and excessive happiness, stiffness in speech and spastic movements.
Before the age of three it is very difficult to identify the syndrome. They are usually very active babies, with abnormal sleep cycles. But it is only at three years when it is possible to detect the problem. Lack of coordination of movements, hyperactivity, trouble walking, speaking, difficulty communicating and differentiated facial features.
They may have an abnormally small head, with an enlarged mouth and jaw, profusion of the tongue and facial muscle abnormalities. This causes trouble swallowing, talking and continuous drooling.
Some may also have strabismus, hypopigmentation of the skin and eyes, and mental retardation.
There is a very interesting Angel-man.com website created by Elena's parents, a girl with the syndrome.
