Potocki-Shaffer Syndrome

1. Causes of the disease

Potocki-Shaffer syndrome is an inherited disorder caused by the deletion of part of the genetic material on the short arm of chromosome 11 (11p11.2). This deletion results in the loss of a specific gene, which affects bone and neurodevelopment. It usually occurs as a de novo mutation, but can also be inherited.

2. Symptoms

• Bone abnormalities : Osteogenesis imperfecta and abnormalities of the bones in the arms and legs may occur. Tumors (osteosclerosing osteomas) may develop in the bones.
• Developmental delays and intellectual disability : There may be delays in language and motor skills, and intellectual development may be delayed.
• Distinctive facial features : Some patients have certain facial features (such as broad eyebrows or a low-set nose bridge).
• Other abnormalities : Neurological disorders and visual and hearing abnormalities may be reported.

3. Treatment

• Developmental Support and Therapy : Developmental support such as physical therapy, speech therapy, and occupational therapy is provided.
• Orthopedic treatment : Surgery for bone abnormalities and the use of braces may be used.
• Medical Management : Management of vision and hearing abnormalities is required.

4. Prognosis

The prognosis varies depending on the severity of symptoms and complications, but with appropriate support and medical management, patients are expected to improve their quality of life.

5. The burden on parents

The financial and time burden of medical expenses and rehabilitation can be significant. We recommend that you utilize support groups and local services to receive appropriate support.