Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies is a very rare genetic disorder which is characterized by distichiasis, congenital heart defects, and various peripheral vascular abnormalities. Only 5 cases have been described in medical literature.

Distichiasis, congenital heart defects and mixed vascular anomalies
Specialty	Medical genetics
Symptoms	Eyelash, congenital heart defects and various vascular abnormalities
Usual onset	Neonatal
Duration	Lifelong
Causes	Genetic mutation
Prevention	none
Prognosis	Medium
Frequency	very rare, only 5 cases have been described in medical literature
Deaths	-

Etimology

This disorder was first described in 1985, when Goldstein et al. described 5 patients; a mother and her 4 children, with a combination of distichiasis, congenital heart defects, and vascular abnormalities. The mother, who was 52 years old, had a ventricular septal defect, two of her daughters had patent ductus arteriosus, her oldest son had bradycardia of the sinus, and her youngest son had stress-induced asystole. Other findings found in some of her children were edema (3/5), chronic venous disease (3/5), varicose veins (2/5), and arterial leg disease (1/5).