Velocardiofacial Syndrome
DiGeorge syndrome is a genetic disorder with varying conditions present in each individual with the syndrome. However, conditions that are common to the syndrome include certain heart defects, effects on facial appearance, and lack of or underdeveloped thymus and parathyroid glands.
The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries:
In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
- hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels)
- hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system
- conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch,
ventricular septal defects, vascular rings)
- cleft lip and/or palate
The name of DiGeorge syndrome was applied to this group of features.
Velocardiofacial Syndrome
OTHER RELATED INFORMATION
DiGeorge syndrome is a genetic disorder with varying conditions present in each individual with the syndrome. However, conditions that are common to the syndrome include certain heart defects, effects on facial appearance, and lack of or underdeveloped thymus and parathyroid glands.
The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries:
In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
- hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels)
- hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system
- conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch,
ventricular septal defects, vascular rings)
- cleft lip and/or palate
The name of DiGeorge syndrome was applied to this group of features.
Velocardiofacial Syndrome
No comments:
Post a Comment