Talk:Cardiofaciocutaneous syndrome

Article categorization
This article was categorized based on scheme outlined at WP:DERM:CAT. kilbad (talk) 22:41, 29 January 2009 (UTC)

sparse or absent eyebrows
I'm new, and I was able, with live chat help, to do my second edit. It was to help expand the article, "dysmorphic feature".

The live chat help, on my first edit, had showed me how to put in a link to a different Wikipedia article, so I did that as part of my edit of the "dysmorphic feature" article.

Here's what I put in to the "dysmorphic feature" article:

"Another example would be sparse eyebrows, which are indicative of cardiofaciocutaneous syndrome, also known as CFC. [1]

[edit] References1.^ http://www.cfcsyndrome.org/pdf/CFCQ-A-doc.pdf"

Here's my edit of the "cardiofaciocutaneous syndrome" article (I put in the words, "or sparse"):

"Malformations of face and head== Individuals with the disorder usually have distinctive malformations of the craniofacial area including an unusually large head (macrocephaly), prominent forehead, and abnormal narrowing of both sides of the forehead (bitemporal constriction); The nose can be upturned and short with a low nasal bridge; and large ears that are abnormally rotated toward the back of the head. In many cases, affected individuals also have downward slanting eyelid folds, widely spaced eyes, drooping of the upper eyelids, inward deviation of the eyes, and other eye abnormalities including absent or sparse eyebrows and eyelashes." (Bold, mine).

But my edit was reverted, and, although the new format, which uses a bullet listing at the top, is super, the listing doesn't include any mention of the eyebrows, and below, in the "Malformations of face and head", it just says "absent eyebrows and eyelashes - citation needed".

I thought we could use this citation:

http://www.cfcsyndrome.org/pdf/CFCQ-A-doc.pdf

from CFC International, a support group for CFC families.

Here's what it says:

"What are the features of the condition? • Facial features: Large forehead, relative macrocephaly (large head), narrowing at the sides of the forehead, down-slanting eyes, ptosis (droopy eyelid), depressed nasal bridge, rotated ears. • Heart: Pulmonic stenosis (narrowing of the artery going from the heart to the lungs), atrial septal defects (holes in the upper chambers of the heart), ventricular septal defects (holes in the lower chambers of the heart), hypertrophic cardiomyopathy (enlarged heart muscle) • Skin and hair: Dry, thickened (hyperkeratotic), or scaly (ichythyotic), eczema (extreme dryness of skin and itchiness); sparse, curly, wooly or brittle hair; eyelashes and eyebrows may be absent or sparse. • Eye findings: wide-spaced eyes (hypertelorism), strabismus (eyes turning in/out), nystagmus (jittery eyes), near-sightedness, small optic (eye) nerves. These may result in decreased vision and acuity. • Feeding/ Gastrointestinal (GI) problems: Difficulty feeding, failure to thrive, reflux, vomiting, oral aversion; intestine malrotation, hernia, and constipation. • Growth: May have normal birth weight and length, but they may drop to below the 5th percentile in infancy. Head remains on the growth curve (relative macrocephaly). Some may have growth hormone deficiency. • Neurologic findings: Hypotonia (low muscle tone), seizures, abnormal EEG, hydrocephalus (fluid on the brain), other brain changes; cognitive impairment (ranging from mild to severe)." (Bold, mine).

Since this group, who are so familiar with this syndrome, use "absent or sparse" as one of their identifying characteristics, I think we should, too. We can use the exact same language, it applies to both eyebrows and eyelashes, and this edit will also match the "dysmorphic feature" article, and not be a mismatch, since there's a link between the two articles, now.

Even though the topic of cardiofaciocutaneous syndrome has been rated as being of low importance, I think we should try to be sensitive, and keep in mind the starfish story, that when you throw a starfish back into the ocean, it may be just a little thing for you to do, but it means the whole world to the starfish. Parents (and pediatricians) of these rare genetic syndrome babies are grasping at straws for a diagnosis, sometimes, and a lot of times their first thought is to try to look it up on Wikipedia. "Dysmorphic feature" is a medical phrase that they might be given, and if we are going to have a link, it should match. Downs syndrome is much more common, and the diagnosis more easily made. The CFC families might appreciate a little help.

These rare-genetic-disorder communities are linked, since babies are misdiagnosed back and forth right now, so the "cardiofaciocutaneous syndrome" article also provides a pathway to CFC International, which can refer families with different but related disorders to sources for those other disorders.

The "dysmorphic feature" article does that too, but without the additional support that the CFC article gives. The "dysmorphic feature" article needs to be expanded, and it has a low priority.

Here's what the "cardiofaciocutaneous syndrome" article has now, at the top:

"Cardiofaciocutaneous Syndrome (CFC) is an extremely rare and serious genetic disorder.[1][2]

It is characterized by the following:

Distinctive facial appearance Unusually sparse, brittle, curly scalp hair A range of skin abnormalities from dermatitis to thick, scaly skin over the entire body (generalized ichthyosis) Heart malformations (congenital or appearing later) especially an obstruction of the normal flow of blood from the lower right ventricle of the heart to the lungs (valvar pulmonary stenosis) Delayed growth Mental retardation Psychomotor retardation Foot abnormalities (extra toe or fusion of two or more toes) Contents [hide] 1 Malformations of face and head 2 Genetic causes of CFC 3 References 4 External links

[edit] Malformations of face and headIndividuals with the disorder usually have distinctive malformations of the craniofacial area including an unusually large head (macrocephaly), prominent forehead, and abnormal narrowing of both sides of the forehead (bitemporal constriction); The nose can be upturned and short with a low nasal bridge; and large ears that are abnormally rotated toward the back of the head. In many cases, affected individuals also have downward slanting eyelid folds, widely spaced eyes, drooping of the upper eyelids, inward deviation of the eyes, and other eye abnormalities including absent eyebrows and eyelashes.[citation needed]"

The edit I think we should make is to put the phrase, "or sparse", after the word, "absent", and to use the above-referenced website address as the citation.

I don't see how we could have it worded so that the citation only applies to eyebrows and eyelashes, so we might want to edit this article more fully, and use the above-referenced website address as the supporting citation for the whole "Malformations of face and head" paragraph, making sure that the paragraph matches the wording at the above-referenced website address.

Thanks very much for considering this, and for any further discussion, this is my first discussion! Entwhiz Entwhiz (talk) 02:41, 25 November 2011 (UTC)