Potocki-Shaffer syndrome

The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. Signs and symptoms that may be present include but are not limited to:^[5][4]

• Enlarged parietal foramina (openings in the two bones that form the top and sides of the skull)
• Multiple exostoses (multiple benign bone tumors)
• Intellectual disability
• Developmental delay
• Failure to thrive
• Autism
• Behavioral problems
• Deafness
• Myopia (nearsightedness)
• Nystagmus (rapid eye movement)
• Cataract (clouding of eye lens)
• Strabismus (cross-eyed)
• Aniridia (complete or partial absence of the iris (colored part of the eye))
• Distinct facial features (microcephaly, sparse eyebrows, prominent nose, small jaw)
• Kidney problems

MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and search for the sign and symptom about which you would like to learn. 

The treatment depends on the signs and symptoms present in the affected individual.^[5][3] 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:^[5][3]

• 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.

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.^[3]