- 11p11.2 deletion
- Deletion of chromosome 11p11.2
- Proximal 11p deletion syndrome
- Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy.
- Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea.
- In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed.
Children with undescended testicles (cryptorchidism) may also need surgery.
In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include:
- Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis;
- A full skeletal survey at diagnosis or by age three;
- Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months;
- Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter;
- Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome;
- Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy;
- Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region;
- Cardiac evaluation to detect any heart abnormalities;
- Thyroid hormone level measurements to detect the hypothyroidism; and
- MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay.
Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.
- Levenson D. New information, Recommendations for Potocki-Shaffer syndrome. Am J Med Genet. March, 2010; 152A(3):fm x. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33289/full#sec1-1. Accessed 9/22/2015.
- Swarr DT et al. Potocki-Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet Part A. 2010; 152A(3):565-572. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33245/abstract. Accessed 9/22/2015.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.