Trichorhinophalangeal Syndrome Type 2 (TRPS2) – 8q23-q24

1. Cause of Disease

TRPS2 (hair, nose, and phalanges syndrome type 2) is caused by a genetic abnormality associated with a gene (TRPS1 gene) located on the long arm (8q23-q24) of chromosome 8. In TRPS2, chromosomal abnormalities (such as gene duplication or deletion) are usually responsible for the bone, soft tissue, and facial features and facial features. The disease is generally caused by new mutations.

2. Symptoms

• Characteristic facial features: long, narrow nose, thin lips, wide eyebrows, etc.
• Hair abnormalities: problems with fine hair, easy shedding, and slow growth.
• Bone abnormalities: shortening and curvature of the fingers, limited range of motion of the joints, and delayed bone formation are characteristic. Growth retardation may also result in short stature.
• Other: Intellectual developmental delays may occur in some patients.

3. Medical Treatment

• Developmental Support and Rehabilitation: Exercise and physical therapy are provided to help maintain range of motion of bones and joints.
• Orthopedic treatment: Surgery of fingers and joints may be performed if necessary.
• Hair management: Appropriate care and treatment may be provided to address hair-related issues.

4. Prognosis

Symptoms of TRPS2 vary greatly from person to person, and early treatment and medical support can improve quality of life. Bone abnormalities may progress with growth and require ongoing management.

5. Burden on Parents

Medical expenses and burdens related to medical care and education increase the time and financial burden on parents, especially when orthopedic surgery or long-term treatment is required. Cooperation with local support groups and specialist physicians is important.