What is Velocardial Facial Syndrome?
Velocardial Facial
Syndrome (VCFS) is a genetic disorder/disease that develop defective thyroid
gland or abnormal pharyngeal. However, the disorder has more than one
recognizing attributes and symptoms.
The term Velocardial
facial syndrome drives from the Latin word "velum" meaning palate,
"cardia" meaning heart, and "facies" means the face. One of
the usual identifying features of Velocardial facial syndrome is cleft lip.
This appears in the newborns. They have a cut on their upper lip and palate.
Moreover, many infants have heart problems, facial appearance defects, minor
learning issues, speech troubles, and feeding problems. In 1978, Dr. Robert J.
Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical
Center in Bronx, New York had identified twelve infants with this disease.
Almost all of the newborns are born with cleft lip, heart defect, and similar
facial features. The other names of the Velocardial Facial Syndrome (VCFS) are
the Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome, and
Conotruncal Anomaly Unusual Face Syndrome.
Causes of Velocardial Facial Syndrome (VCFS)
Well, the root causes
of Velocardial Facial Syndrome (VCFS) are still unknown. The only known reason
is that it is a genetic disease. So, when one or more genes in the body are
problematic, then an infant is born with the VCFS disorder. Moreover, most of
the newborns who have been born with Velocardial Facial Syndrome (VCFS) disease
have a missing part of chromosome 22. Chromosomes are threadlike structures
that are available in every cell of the body. Moreover, each chromosome has
100s of genes. A human body’s single cell has a normal quantity of 46
chromosomes. They receive 23 chromosome cells from each parent. Furthermore,
the missing part of the chromosome cell in the Velocardial Facial Syndrome
(VCFS) infant is 22q11. Because of this, some of the genes are missing from the
chromosomes.
Some physicians and
scientists have said that Velocardial Facial Syndrome (VCFS) is an autosomal
dominant disorder. This implies that only one parent has this disease and
he/she passes this into the infant. Moreover, when one of the parents has
Velocardial Facial Syndrome, then the possibility of adopting the disease is
one in two or about 50/50 for each birth. Another research on the Velocardial
Facial Syndrome (VCFS) has shown that having these syndromes in the genes in
one of the parents only causes 10 to 15% of cases. Moreover, when a person is
carrying the defective chromosome, the reason is unknown.
Features of Velocardial Facial Syndrome (VCFS)
Because of chromosome
22, there are many other problems involved in a patient. Due to the absence of
22q11, many other disorders can appear in a newborn. However, not every problem
has to occur in every infant. But, a child exhibits most of them. The other
syndromes are cleft lip, cleft palate, soft palate, similar faces, elongated
face features, almond-shaped eyes, heat defects, thyroid problems, wide-shaped
nose, small ears, problems and difficulties in listening and learning things,
eyes issues, feeding defects. Sometimes kids cannot pass the food in their
stomach, it comes out through the nose. Such infants can have nasal problems,
middle ear infections, otitis media, hypoparathyroidism, low level of
parathyroid hormone, and low immune problems. They also have weak muscles,
short height, infections on the different parts of the body, the curvature of
the spine, scoliosis, and tapered fingers.
Cases of Velocardial Facial Syndrome (VCFS)
Velocardial Facial
Syndrome (VCFS)is 4th common syndrome in infants. However, it has an
approximate percentage of 5-8. Almost everyone newborns from the 700 are
suffering from this disease. Moreover, according to a scientific report,
130,000 individuals have Velocardial Facial Syndrome (VCFS) syndrome.
No comments:
Post a Comment