Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Shprintzen Syndrome (velocardiofacial Syndrome, VCFS), Microdeletion 22q11.2 [Q93]

OMIM number: 192430

Dr. med. Imma Rost

Scientific Background

Shprintzen or Velocardiofacial syndrome (VCFS), just like the DiGeorge syndrome, belongs to the group of disorders that are caused by the microdeletion 22q11.2 and can be grouped under this generic term. Major signs are cardiac defects in 85% of all cases, cleft palate, velopharyngeal insufficiency with nasal speech, learning disability, phenotypic features such as a broad nasal root, long nose, hypoplastic nares, a long, thin body type with slim hands and feet. Short stature is present in approx. 1/3 of all patients. Furthermore, abnormal behaviour such as extreme reticence and shyness are also characteristic. 10% are thought to have schizophrenic psychoses. Hypoplasia or aplasia of the thymus and the parathyroid glands occur less frequently than in the DiGeorge syndrome. There are overlappings with the DiGeorge syndrome; in some patients, a clear association of the signs with one of the two syndromes is not possible. Since in approximately 5 to 10% of all cases the microdeletion 22q11.2 was inherited by one of the parents, the parents should be tested to rule out a microdeletion; especially if there is desire for further children.