Also known as shprintzen syndrome, this more than is a congenital malformation (birth defect) syndrome with cleft palate, heart defect, abnormal face, and learning problems. The condition is therefore called the velo-cardio-facial (vcf) syndrome.
Shprintzen named this group of features velo-cardio-facial syndrome, but the syndrome was also referred to as Shprintzen syndrome.
In the 1980s, the technology was developed to identify an underlying chromosome defect in these syndromes.
Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.
DiGeorge syndrome
velocardiofacial syndrome
Shprintzen syndrome
conotruncal anomaly face syndrome
Caylor cardiofacial syndrome
autosomal dominant Opitz G/BBB syndrome ...
Severe Myoclonic epilepsy of Infancy see Dravet syndrome
Short Stature see Restricted Growth
Short-Chain Acyl-CoA Dehydrogenase (SCAD) deficiency see Fatty Acid Oxidation Disorders
Shprintzen syndrome see 22q11 Deletion syndromes ...
 See also: Hearing Loss, Symptom, Autosomal dominant, Kidney, DiGeorge Syndrome
  
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