Alicia A. Romano, MD |
You may never have heard of Noonan Syndrome, or NS, but it is a fairly common Congenital Genetic condition, with an estimated incidence of one child in every 1,000 to one in every 2,500 live births.
Alicia A. Romano, MD, a Pediatric Endocrinologist with CWPW, is considered an international expert on NS, having both research and clinical experience involving this medical condition. As a subspecialist at CWPW she is called upon to help diagnose, develop treatment plans, and work with other physicians involved in the care of children with NS.
Dr. Romano was the leading author of a succinct yet far-reaching article published recently in the prestigious medical journal Pediatrics . In the article, Dr. Romano and her expert colleagues describe the clinical features, diagnostic considerations and management guidelines based on the latest medical evidence. “The article is an important tool for primary care practitioners,” Dr. Romano says. “Not only are they often responsible for identifying the condition, but for coordinating all of the facets of care for these children and their families. Their care is truly multidisciplinary, often requiring multiple subspecialists as well as other services such as physical therapy, speech and feeding therapy, etc.” |
According to Dr. Romano, NS is characterized by distinctive facial features, short stature, and Congenital Heart Disease.
“Some children have no heart issues, and only some facial features that may blend in with other children,” Dr. Romano says. Some individuals with NS have normal stature, but short stature can be problematic for those affected by it. These children tend to be much shorter than their peers.
Some children with NS can also exhibit marked feeding problems in infancy. “These children don't gain weight, and it's very frustrating for parents,” notes Dr. Romano. Because of the variability in the symptoms, the age of diagnosis is also variable. Some may be diagnosed right after birth (likely if there is a heart murmur or heart abnormality noted early on), but in some cases children are not diagnosed with NS until later in childhood, adolescence or even adulthood. For example, babies may present with significant swelling of the hands and feet and widening of the neck with or without congenital heart disease, while other individuals may present in adulthood only after their child is diagnosed with NS.
NS is caused by a mutation or change in one of several genes, the most common of which is the PTPN 11 gene. Although great strides have been made in the molecular understanding of the condition, a mutation can be detected in about 70% of the cases. That is, 30% of those who seem to have NS will have no detectable change in their genes to explain their clinical features. “Even if all of the genetic tests come back negative, the child can still have NS,” Dr. Romano says. “So until the remaining gene mutations are identified, ultimately NS is a clinical diagnosis.” In about half of those affected, the gene change is the result of a spontaneous mutation. This means that neither parent has the gene change and the child's mutation is due to “happenstance” so to speak. Once the diagnosis of NS is considered, the child is typically referred to a geneticist for confirmation.
Acknowledgement of the condition dates to 1962, when pediatric cardiologist Jacqueline A. Noonan, MD, from the University of Kentucky Medical Center, identified a group of children with similar facial features, short stature, chest deformities, and congenital heart defects. “The facial features often provide clues to the diagnosis in infancy,” Dr. Romano states. “These include a large forehead, narrow temples, small face with wide-spaced eyes, a short, broad nose, low-set ears that are oval in shape, distinctive lips, and a short neck with excessive skin. The eyes are frequently a strikingly beautiful blue color. These features can change with age and appear different toward adolescence,” she adds.
There is no single treatment for NS; individual conditions such as growth failure, cardiac or feeding issues are addressed by subspecialists.
The Noonan Syndrome Support Group (TNSSG), based in Baltimore , is an organization that offers support for those affected by NS. Dr. Romano has lectured at international meetings of TNSSG, where groups of children, adolescents and adults convene with health experts to share insights into and experiences of living with NS. “Children with NS can get teased a lot,” Dr. Romano says, mostly because of their short stature. Facial differences may also set them apart, which can make living with NS challenging.
“They're delicious kids,” Dr. Romano says of the NS patients she's treated.
Making the NS diagnosis answers lots of questions for families of NS children, and opens doors to proper treatment. “Part of the importance in making the diagnosis is so parents know what to expect, and to make sure they get the treatment and the services they need,” Dr. Romano explains. “The management guidelines in Pediatrics were developed to facilitate the diagnosis and promote optimal care.”
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