Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life.

The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. Many people with this condition have distinctive facial features, which can include a wide, short skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a shortened distance between the nose and upper lip (a short philtrum); and a downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract.

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:

• 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

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.