Smith–Martin–Dodd syndrome explained

Specialty:	cardiology

Smith–Martin–Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994.^[1] It is characterized by small eyes, a diaphragmatic hernia, and Tetralogy of Fallot, a congenital heart defect.^{[2] [3]} The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2).^[4] A congenital diaphragmatic hernia is consistent with chromosome 1q41-q42 deletion syndrome,^[5] and the report by Smith et al. suggested that genes involved in the translocation may be important for the development of morphological characteristics, especially those of the eye or heart.^[1]

Notes and References

1. Smith SA, Martin KE, Dodd KL, Young ID . Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation . Clinical Dysmorphology . 3 . 4 . 287–91 . October 1994 . 7894732 . 10.1097/00019605-199410000-00002.
2. Web site: Check Orphan. Smith Martin Dodd Syndrome. 2011-10-31. https://archive.today/20120722051250/http://www.checkorphan.org/disease/smith-martin-dodd-syndrome. 2012-07-22. dead.
3. Web site: Online Medical Inheritance in Man. DIAPHRAGMATIC HERNIA, CONGENITAL. 2011-10-31.
4. Web site: Online Medical Inheritance in Man. FRYNS SYNDROME; FRNS. 2011-10-31.
5. Web site: Online Medical Inheritance in Man. CHROMOSOME 1q41-q42 DELETION SYNDROME. 2011-10-31.