Noonan’s Syndrome Kimberly T. Edwards
What is Noonan’s Syndrome? Noonan’s Syndrome (NS) is a relatively Common congenital genetic condition which affects both males and females. It prevents normal development in various parts of the body.
Noonan’s Syndrome (con’d) The history of NS begins with a woman named Dr. Jacqueline Noonan. In 1962, Noonan presented at Midwest Society for Pediatric research a clinical study of associated non cardiac malformations in children with congenital heart disease and describes nine patients who shared similar physical disorders.
What is Noonan’s Syndrome (con’d) Dr. John Opitz proposed that Noonan’s Syndrome be given the name because Dr. Jackie Noonan was the first to recognize and describe the condition that occurred in both sexes.
What causes Noonan’s Syndrome? NS is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent. There is 1 case per 1000 to 1 case per 2500 live births. The disorder is present from birth, but age impacts the facial phenotype. Infants with Noonan syndrome can be difficult to recognize by facial appearance alone. The phenotype becomes more striking in early childhood, but with advancing age, it may again become quite subtle. Careful examination of an affected child's parents may in fact reveal that they are mildly affected.
Physical Features Children Could Have There is a whole list of Noonan’s Syndrome: Heart abnormalities Joints and Muscles Feeding Bruising and Growth Bleeding Hearing Puberty Lymphatic System
Development, Behavior, and Intelligence The age at which developmental milestones are achieved may be delayed. For example, the approximate age of sitting alone is 10 months and walking unaided 21 months. Around 10% of children with Noonan Syndrome require significant special education. It should be noted that Noonan Syndrome is not usually associated with severe learning difficulties. No specific behavioral pattern has been identified, however individuals have been reported to show signs of clumsiness, stubbornness, and irritability.
References and Support Groups • http://www.sahha.gov.mt/pages.aspx?page=527 • http://www.noonansyndrome.org/ • http://www.ojrd.com/content/2/1/4 • http://emedicine.medscape.com/article/947504-overview • Check out you tube at this URL about a little boy named Zackhttp://www.youtube.com/watch?v=59-Ur86Vw2Q