Velocardiofacial Syndrome

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by nemesisq
Last updated 6 years ago

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Discipline:
Health & Fitness
Subject:
Health
Grade:
8,9,10,11,12

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Velocardiofacial Syndrome

Velocardiofacial Syndrome

EffectsNot all of these identifying features are found in each child who is born with VCFS. The most common features are palatal differences (~75 percent), heart defects (75 percent), problems fighting infection (77 percent), low calcium levels (50 percent), differences in the kidney (35 percent), characteristic facial appearance (numbers vary depending on the individual's ethnic and racial background), learning problems (~90 percent) and speech (~75 percent) and feeding problems (35 percent).

The name velocardiofacial syndrome comes from the Latin words 'velum' meaning palate, 'cardia' meaning heart and 'facies' having to do with the face.

ALSO KNOWN AS :DiGeorge syndrome, Conotruncal Anomaly Face syndrome (CTAF), autosomal dominant Opitz G/BBB syndrome or Cayler Cardiofacial syndrome, 22q11.2 deletion syndrome

Isaac Davies, Born with the syndrome, has had reoccurring immunity issues but has been able to bounce back!

(Example of a Cleft Palate)

Deletion in 22 (depicted above) may be a Larger or Smaller Fraction

SymptomsDespite the involvement of a very specific portion of chromosome 22, there is great variation in the symptoms of this syndrome. At least 30 different symptoms have been associated with the 22q11 deletion. Most of these symptoms are not present in all individuals who have VCFS. Symptoms include: cleft palate, usually of the soft palate (the roof of the mouth nearest the throat which is behind the bony palate); heart problems; similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that include food coming through the nose (nasal regurgitation) because of the palatal differences; middle-ear infections (otitis media); low calcium due to hypoparathyroidism (low levels of the parathyroid hormone that can result in seizures); immune system problems which make it difficult for the body to fight infections; differences in the way the kidneys are formed or how they work; weak muscles; differences in the spine such as curvature of the spine (scoliosis) or bony abnormalities in the neck or upper back; and tapered fingers. Children are born with these features.

What is It?Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes hereditary. VCFS is characterized by a combination of medical problems that vary from child to child. These medical problems include: cleft palate, or an opening in the roof of the mouth, and other differences in the palate; heart defects; problems fighting infection; low calcium levels; differences in the way the kidneys are formed or work; a characteristic facial appearance; learning problems; and speech and feeding problems.

TreatmentTreatment is based on the type of symptoms that are present. For example, heart defects are treated as they would normally be via surgical interventions in the newborn period. Individuals who have low calcium levels are given calcium supplements and frequently vitamin D to help them absorb the calcium. Palate problems are treated by a team of specialists called a cleft palate or craniofacial team and again often require surgical interventions and intensive speech therapy. Infections are generally treated aggressively with antibiotics in infants and children with immune problems.Early intervention and speech therapies are started when possible at one year of age to assess and treat developmental delays.

http://ghr.nlm.nih.gov/condition/22q112-deletion-syndromehttp://www.22q.org/http://www.c22c.org/http://www.faces-cranio.org/Disord/Velo.htmhttps://rarediseases.info.nih.gov/

CausesVCFS is due to a 22q11.2 deletion. Most often neither parent has the deletion and so it is new in the child (93 percent) and the chance for the couple to have another child with VCFS is quite low (close to zero). However, once the deletion is present in a person he or she has a 50 percent chance for having children who also have the deletion. The 22q11 deletion happens as an accident when either the egg or sperm are being formed or early in fetal development. In less than 10 percent of cases, a person with VCFS inherits the deletion in chromosome 22 from a parent.


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