Hello Alba,

Although I don't have any professional IBCLC experience with confirmed cases of Noonan syndrome, I spent the first eight years of my nursing career serving infants, children, and young adults in the birth-to-21 population with genetic and other chronic health problems.  

One invaluable educational resource for patients, families, and healthcare professionals is the database at the National Organization for Rare Disorders (NORD).  The following excerpt is the introductory section from NORD's much more detailed content on Noonan syndrome: 

"Noonan syndrome is a genetic disorder that is typically evident at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic features of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes’ inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis) and thickening of the ventricular heart muscle (hypertrophic cardiomyopathy). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, learning difficulties or mild intellectual disability, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings.

"In the majority of cases Noonan syndrome is an autosomal dominant genetic disorder caused by abnormalities (mutations) in more than eight genes. The five most commonly involved genes are: PTPN11 (50%), SOS1 (10-13%), RAF1 (5%), RIT1 (5%), and KRAS (less than 5%). Fewer individuals have a mutation in NRAS, BRAF, MEK2, RRAS, RASA2, A2ML1, and SOS2. Noonan-like disorders are found in association with mutations in SHOC2 and CBL. Noonan syndrome caused by pathogenic variants in LZTR1 can be inherited in either an autosomal dominant or an autosomal recessive manner."

For NORD's full discussion on Noonan syndrome, please see https://rarediseases.org/rare-diseases/noonan-syndrome/#:~:text=Noonan%20syndrome%20with%20multiple%20lentigines,%2C%20and%2For%20the%20genitals.

With kind regards,

Debbie

Debra Swank, RN BSN IBCLC
Program Director
More Than Reflexes Education
Elkins, West Virginia USA
http://www.MoreThanReflexes.org

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