Cardiofaciocutaneous Syndrome of the Heart, Face, and Skin

First described in 1986, Cardiofaciocutaneous Syndrome is an extremely rare, autosomal dominant, genetic disorder, with no known cures, that presents at birth with many possible characteristics affecting the heart, face, and skin, including cardio myopathy, extra toes on the patient's feet, fusion of two or more toes, mental retardation, sparse, brittle, curly scalp hair, delayed growth, atriel septic defects, psychomotor retardation slow downs of the ability to think, and reduced physical movements.

Distinctive Heads:

Children born with Cardiofaciocutaneous Syndrome typically have unusually large heads, prominent foreheads, bitemporal narrowing of both sides of the forehead, upturned noses, low nasal bridges, abnormally large ears that may be rotated towards the back of the head, widely spaced eyes, drooping upper eyelids, and other eye deficiencies,

Side Effects:

Side effects of Cardiofaciocutaneous Syndrome may include such things as pulmonary stenosis, narrow arteries going from the heart to the lungs, holes in the upper and lower chambers of the heart, enlarged heart muscles, eczema, near-sightedness, small optic nerves, intestinal malrotations, growth hormone deficiencies, low muscle tones, seizures, fluid on the brain, gastrointestinal tract disorders, central nervous system defects, congenital heart defects, short statures, and skin abnormalities.

Genetic Defects:

Genetic testing shows that eighty-seven percent of Cardiofaciocutaneous Syndrome patients have dysfunctional BRAF genes that produce signals in cells and cell growths, and help regulate cell divisions, cell differentiations, and cell secretions, while other studies indicate that thirteen percent of these patients are afflicted with MEK1 meiosis-specific gene mutations that may affect ventricular cardiomyseptic muscle cells located around the left ventricle of the heart, MEK2 gene mutations that induce growth arrests, nucleophosmin hyperphosphorylations, centrosome overamplification regulators of cell cycle progressions, and other gene mutations.

Genes:

BRAF, MEK1, and MEK2 genes encode various proteins in the MAP kinase pathway of theronine essential amino acids, and mitogen-activated serine protein amino acids, that respond to extracellular stimulations, help regulate mitosis cell separations of chromosomes in eukaryotic cells in membranes, produce differentiation proliferations whereby less specific cells become specialized cell types, affect programmed cell deaths known as apoptosis, and are associated with gene expressions in the synthesis of products such as proteins, and Cardiofaciocutaneous Syndrome patients can pass these mutated gene defects down to their offspring at a rate of a 50-50 chance of contracting the ailment.

Treatments:

Treatment options for Cardiofaciocutaneous Syndrome may include symptomatic managements, gastronomic or tube feedings, early interventions, heart surgeries to correct structural defects, eye surgeries, neuropsychological assessments, brain MRIs, ophthalmological examinations, EEGs, growth monitorings, occupational therapies, physical therapies, speech therapies, and the Cardiofaciocutaneous Index of 82 clinical traits associated with the ailment.

Noonan Syndrome:

Cardiofaciocutaneous Syndrome may overlap with Noonan Syndrome, (as previously described in the Lymphedema Straight Talk Series, see Volumn 1 / Number 34, entitled The Many Faces Of Noonan Syndrome), and acute diagnosis is necessary for proper medical treatments.

Lymphedema:

Prenatal-onset Lymphedema affecting the dorsal aspects of the feet, late-natal morphogenetic effects such as hypotrichosis, and congenital bilateral Lymphedema of the legs, may develop in patients with Cardiofaciocutaneous Syndrome.

Previously: Chronic Lymphocytic Leukemia: The "Watch And Wait" Disease.

Next Time: Paint It Yellow Nail Syndrome.