Potocki-Shaffer syndrome

What is the long-term outlook for people with Potocki-Shaffer syndrome?

The outcome depends on the signs and symptoms that are present. The signs and symptoms are highly variable according to the length of the chromosome 11p deletion. Some affected people do not have any serious problems and have a fairly normal life and others are severely affected, unable to speak or walk or have severe kidney problems.

Last updated on 05-01-20

How might Potocki-Shaffer be treated?

The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered:

  • Treatment of Wilms tumor (type of kidney cancer), which may include surgery to remove the kidney, radiation therapy and chemotherapy.
  • Treatment of aniridia (complete or partial absence of iris (colored part of the eye)) is aimed at maintaining vision. Glaucoma (eye disease) or cataracts (clouding of the eye lens) 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 (cross-eyed) and nystagmus (repetitive movement of the eyes) 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;
  • 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.

Last updated on 05-01-20

Where To Start

Featured Guides

The FAQs About Chromosome Disorders provides general information about chromosomes, what they do, the different types of chromosome disorders, and how they occur. This guide also provides suggestions for how to connect with other patients, locate research studies, and find additional information.

Last updated on 04-27-20

Name: Chromosome Disorder Outreach CDO PO Box 724
Boca Raton, FL, 33429 , United States
Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/
Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
Name: International WAGR Syndrome Association PO Box 2875
Montgomery Village, MD, 20886, United States
Email: ReachingOut@wagr.org Url: http://www.wagr.org
Name: Potocki-Shaffer Syndrome Website Email: http://www.potockishaffersyndrome.org/contact-us/ Url: http://www.potockishaffersyndrome.org/

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