Problem
Velo-cardio facial syndrome
Other Names:
Shprintzen syndromeDiGeorge syndrome
Craniofacial syndrome
Conotruncal anomaly unusual face syndrome
Nature:
Velocardiofacial syndrome (VCFS), also known as Shprintzen syndrome, is one of the most common genetic disorders in humans. It is caused by a deletion of a small segment of chromosome 22. Velocardiofacial syndrome has been associated with over thirty different features. The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.
Broader Problems:
Disorders of the headCongenital anomalies of cranium and face bonesCongenital syndromes affecting multiple systemsChromosome 22 disorders Subject(s):
Medicine → AnatomyMedicine → Cardiology
Medicine → Locomotive, integumentary system
Medicine → Pathology
Transportation, Telecommunications → Cycling
Related UN Sustainable Development Goals:
Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST