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.[1]
| 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 edit
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).[2][3]
References edit
- ^ "OMIM Entry - 126320 - DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE". omim.org. Retrieved 2022-06-04.
- ^ Goldstein, Stanley; Qazi, Qutub H.; Fitzgerald, Joseph; Goldstein, Joseph; Friedman, Anita P.; Sawyer, Philip; Opitz, John M.; Reynolds, James F. (February 1985). "Distichiasis, congenital heart defects and mixed peripheral vascular anomalies". American Journal of Medical Genetics. 20 (2): 283–294. doi:10.1002/ajmg.1320200212. ISSN 0148-7299. PMID 3976722.
- ^ Goldstein, S.; Qazi, Q. H.; Fitzgerald, J.; Goldstein, J.; Friedman, A. P.; Sawyer, P. (February 1985). "Distichiasis, congenital heart defects and mixed peripheral vascular anomalies". American Journal of Medical Genetics. 20 (2): 283–294. doi:10.1002/ajmg.1320200212. ISSN 0148-7299. PMID 3976722.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |