Emanuel Syndrome

and the 11/22 Translocation

Emanuel Syndrome

Genital/Reproductive

Genital and Anal differences – Emanuel Syndrome

It is not uncommon for children with Emanuel syndrome to have genital or anal differences, or differences in their reproductive system.

Males with Emanuel Syndrome may have undescended testicles (cryptorchidism) or an abnormally small penis (micropenis). Undescended testicles may come down on their own within a few weeks of birth. If not, they must be brought down surgically into the scrotum.

There are also reports of hypospadias – where the opening of the urethra is not located at the tip of the penis.

A smaller percentage of people with Emanuel Syndrome (about 15%) may be born with an imperforate anus (also called anal atresia), where the opening to the anus is missing or blocked. Urgent surgery is required to repair this when the child is born. Learn more from the Children’s Hospital of Philadelphia.

There are also reports in the medical literature, and among group members, of incidences of Hirschsprung’s Disease. This is a condition where missing nerve cells in the muscles of the colon make it difficult to pass stool and result in blockages. Read more from the Mayo Clinic website.

Other less common or unique findings have included:

  • Abnormal testes / hypoplastic scrotum
  • Ambiguous genitalia
  • Hypoplastic labia majora and minora
  • Duplication of the uterus and vagina
  • Bilateral hydrocele
  • Rectovaginal fistula
  • Hypoplasia of the uterus
  • Single ovary

Reference

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957