Thank you very much Debbie:

There really is a lot to keep in mind when it comes to being prepared to
accompany the family. It will be a challenge.
I'm studying speech therapy, and we have been told about the syndrome but
more focused on communication and speech than on breastfeeding, it will be
quite a learning experience.

Kind regards
Alba Padró
Co-Founder
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El dom, 29 may 2022 a las 22:48, Debra Swank (<
[log in to unmask]>) escribió:

> 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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