Cardial facial syndrome

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Velo-cardio-facial syndrome: 30 years of study

Vcfs has several other labels that have been applied in a variety of literature sources around the world. Mcdonald-mcginn dm, zackai eh. Therefore, overuse of antibiotics should be avoided in order to prevent the development of opportunistic infections. Ophthalmologic abnormalities are seen in 70% of patients with velocardiofacial syndrome, such as posterior embryotoxon, bilateral cataracts, tortuous retinal vessels, and small optic disks. We advance care through early diagnosis and evidence-based protocols geared to specific disorders such as vcfs, in order to maximize the quality of children’s lives.

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Learning about velocardiofacial syndrome - national human genome research institute (nhgri)

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Acknowledgements

Cardial facial syndrome. Those without serious heart defects can expect a normal lifespan. Reductions in both grey and white matter volumes have been documented with anomalous characteristics of the corpus callosum, the amygdala, the caudate nucleus, and temporo-parietal regions of the brain. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. 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. Among the anomalies seen in the pharynx are major vascular anomalies including abnormal placement of the internal carotid arteries [. Therefore, these patients should undergo genetic testing.

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Epidemiology

An estimated 75% of patients with velocardiofacial syndrome have cardiac anomalies. No single clinical feature occurs in 100% of cases and there is no reported case of the syndrome that has all or even most of the clinical findings.

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