Split-Hand/Foot Malformation 3 (SHFM3) – 10q24

1. Causes of the disease

SHFM3 (Split Hand and Foot Malformation Type 3) is an inherited disorder caused by a gene mutation or deletion in the q24 region of chromosome 10. The disorder affects the development of the hands and feet, resulting in limb deformities. It can be genetically passed down within families or can arise from a de novo mutation.

2. Symptoms

• Hand and foot deformities : Fingers and toes may appear split, with a missing middle part (split deformity).
• Limb hypoplasia : In some patients, the bones of the hands and feet may not develop fully, limiting joint mobility.

3. Treatment

• Orthopedic surgery : Surgery to improve function of the hands and feet may be performed, if necessary.
• Physical therapy : Therapies are given to maintain range of motion in the hands and feet and help improve function.
• Use of prosthetics and assistive devices : Prosthetics and assistive devices may be used to make daily activities easier.

4. Prognosis

Surgery and therapeutic education can sometimes improve the function of the hands and feet, but long-term support is necessary as the limitations on daily life vary depending on the severity of the symptoms.

5. The burden on parents

The financial and psychological burden of needing medical expenses, rehabilitation, and support for daily life can be significant. It is important to work with local medical institutions and support groups to receive the support you need.