Scientific background

Shprintzen or velocardiofacial syndrome (VCFS) belongs like DiGeorge syndrome to the syndromes caused by the microdeletion 22q11.2 and can be grouped under this general term. Leading symptoms are heart defects in 85% of cases, cleft palate, velopharyngeal insufficiency with nasal speech, learning disability, characteristic phenotypic features such as broad nasal root, long nose, hypoplastic nostrils, gracile physique with long slender hands and feet. About 1/3 of the patients have a short stature. Further characteristics are conspicuous behaviors such as extreme reticence and shyness. In up to 25% of adults, psychoses of the schizophrenic type may occur. Hypoplasia or aplasia of the thymus and parathyroid glands are less common than in DiGeorge syndrome. There is overlap with DiGeorge syndrome. In some patients, a clear diagnosis of one of the two syndromes is not possible. In approximately 5 to 10% of cases, the microdeletion 22q11.2 has already been inherited from one of the parents. Therefore, an examination of the parents should be performed to exclude the microdeletion especially with further family planning.



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