SHPRINTZEN SYNDROME

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Description

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.

 

References

Goldenberg P 2018, Pediatr Ann 47(5):e198 / Momma 2007, Int J Cardiol 114:147 / Arinami 2006, J Hum Genet 51:1037 / Simon et al. 2005, Dev Psychopathol 17:753 / Bassett 2005, Am J Med Genet 138A:307 / Sullivan 2004, Curr Opin Allergy Klin Immunol 4:505 / Yamagishi and Keio 2002, Med 51:77 / Jawad 2001, J Pediat 139:715 / Scambler 2000, Hum Mol Genet 9, 16:2421 / Rost 2000, Monatsschr Kinderheilkd, 148:55 / Ryan et al. 1997, J Med Genet 34:798

GENES

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ASSOCIATED TESTS

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