February is Noonan Syndrome Awareness Month, and 23 February is Noonan Syndrome Awareness Day.
Wearing an Awareness Bracelet creates an opportunity to start a conversation and share information about a particular cause or disease. One conversation can have ripple effects and may ultimately improve early diagnosis, access to services, increase funding for research, and help reduce feelings of isolation as well as discrimination that so many individuals with rare diseases face on a daily basis. Shop Noonan Syndrome Awareness Bracelets.
What is Noonan Syndrome?
Noonan syndrome (NS) is a variably expressed, multi-system genetic disorder that is present in about 1 in 1,000 – 2,500 births. People with NS may experience bleeding issues, congenital heart defects including hypertrophic cardiomyopathy and/or pulmonary valve stenosis, lymphatic abnormalities, small stature/growth issues, feeding and gastrointestinal issues, failure to thrive, hypertelorism, learning disorders, autism, unexplained chronic pain, chiari malformation, hypotonia, ptosis, skeletal malformations, laryngomalacia, tracheomalacia, opthamology issues, orthopaedic issues, oncology issues and much, much more. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively.
NS is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). In many individuals who have NS, the altered gene happens for the first time in them, and neither of the parents has Noonan syndrome (this is called a de novo mutation). Because some cases of NS occur spontaneously, there is no known way to prevent it. NS can be detected with molecular genetic testing.
Management of Noonan syndrome focuses on controlling the disorder’s symptoms and complications.
The signs and symptoms of Noonan Syndrome vary greatly in range and severity from person to person. Characteristics may be related to the specific gene containing the mutation.
Symptoms of Noonan Syndrome
The symptoms of Noonan syndrome may include the following:
A characteristic facial appearance:
The Head may appear large with a prominent forehead and a low hairline at the back of the head.
Facial features may appear coarse, but appear sharper with age. The face may appear droopy and expressionless.
Eyes are wide-set and down-slanting with droopy lids. Irises are pale blue or green.
Ears are low-set and rotated backward.
The Nose is depressed at the top, with a wide base and bulbous tip.
The Mouth has a deep groove between the nose and mouth and wide peaks in the upper lip. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Teeth may be crooked, the inside roof of the mouth (palate) may be highly arched and the lower jaw may be small.
Skin may appear thin and transparent with age.
Approximately 50% – 70% of those with NS have short stature.
Heart defect present at birth (congenital heart defect).
A broad or webbed neck.
Minor eye problems such as strabismus in up to 95 percent of individuals.
Bleeding problems such as a history of abnormal bleeding or bruising.
Developmental delay of varying degrees, but usually mild.
Genital and kidney conditions.
Treatment is based on the individual`s particular symptoms.
- Heart problems are followed on a regular basis, and are treated in the same way as they are for those in the general population.
- Bleeding problems may have a variety of causes and are treated accordingly.
- Growth problems may be treated with growth hormone treatment.
- Early intervention programs are used to help with developmental disabilities, when present.
Watch: A Conversation with Dr. Bruce Gelb, Director of the Mindich Child Health and Development Institute at Mt. Sinai Hospital. An expert in Noonan syndrome, Dr. Gelb has studied the genetic origins of this disease to understand its pathogenesis. Noonan and related syndromes result from mutations in several genes that encode proteins that cells use to signal from the outer membrane to the nucleus. Dr. Gelb and colleagues examine whether stem cells generated from cultured skin cells malfunction, leading to developmental disorders, and whether it is possible to coax cellular development to function normally.
*All information in this post is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website do not offer any diagnosis or treatment, and will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.