HOPE LANDING
INSERVICE – Hannah Lewis
July 17, 2013 DIAGNOSIS – Noonan Syndrome

A. Etiology and disease process
Noonan Syndrome is a common, clinically and genetically heterogeneous condition that was first identified by Dr. Jacqueline Noonan in 1962. The condition is characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities (Romano, 2010). NS has an estimated prevalence of 1 in 1000 to 1 in 2500 live births. Facial and musculoskeletal features most often lead to a diagnosis of NS. Until recently, a diagnosis was based solely on clinical findings, but genetic mutations are identifiable in ~61% of patients diagnosed with NS.
B. Problems/signs/symptoms experienced
There are many problems, signs, and symptoms experienced in children and adolescents who are diagnosed with Noonan Syndrome. The list includes cardiovascular issues, growth and endocrine issues, renal and genitourinary problems, gastrointestinal issues, hematology issues, genotype/phenotype issues, neurological, behavioral, and cognitive issues, eye and ear deficits and losses, orthopedic and dental issues, lymphatic problems, and anesthesia risks. Their eyes are wide-spaced, ears are lower than normal and posteriorly tilted, neck is short, and nose is short and broad with a depressed root and full tip. Eyes may be pale blue or blue-green and much lighter than familial traits. Rounded shoulders are common, which could lead to spinal abnormalities. Abnormal forearm carrying angles are found in more than half of the NS population. Hyperextensibility may be present. There may be cardiovascular and feeding problems that practitioners should be made aware of. Also,